{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA90527517", "communityStandardTitle": [ "NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1042648", "active": true, "id": "COSM1042648" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1934767[alleleid]", "alleleId": 1934767, "preferredName": "NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203477", "RCV": [ "RCV002651772", "RCV003988067" ], "variationId": 2203477 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.193355804C>T?assembly=hg19", "id": "chr3:g.193355804C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.193638015C>T?assembly=hg38", "id": "chr3:g.193638015C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104893752", "rs": 104893752 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-193638015-C-T?dataset=gnomad_r4", "id": "3-193638015-C-T", "variant": "3:193638015 C / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 193638015, "referenceAllele": "C", "start": 193638014 } ], "hgvs": [ "NC_000003.12:g.193638015C>T", "CM000665.2:g.193638015C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 193355804, "referenceAllele": "C", "start": 193355803 } ], "hgvs": [ "NC_000003.11:g.193355804C>T", "CM000665.1:g.193355804C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 194838498, "referenceAllele": "C", "start": 194838497 } ], "hgvs": [ "NC_000003.10:g.194838498C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 49872, "referenceAllele": "C", "start": 49871 } ], "hgvs": [ "NG_011605.1:g.49872C>T", "LRG_337:g.49872C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361510.8:c.1099C>T" ], "proteinEffect": { "hgvs": "ENSP00000355324.2:p.Arg367Ter", "hgvsWellDefined": "ENSP00000355324.2:p.Arg367_Lys1015delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749487", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361510.8:c.1099C>T" }, "RefSeq": { "hgvs": "NM_130837.3:c.1099C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355324.2:p.Arg367Ter" }, "RefSeq": { "hgvs": "NP_570850.2:p.Arg367Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361828.7:c.934C>T" ], "proteinEffect": { "hgvs": "ENSP00000354429.3:p.Arg312Ter", "hgvsWellDefined": "ENSP00000354429.3:p.Arg312_Lys960delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749547" }, { "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "C", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361908.8:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000354681.3:p.Arg349Ter", "hgvsWellDefined": "ENSP00000354681.3:p.Arg349_Lys997delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749561" }, { "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000392436.7:c.934C>T" ], "proteinEffect": { "hgvs": "ENSP00000376231.3:p.Arg312Ter", "hgvsWellDefined": "ENSP00000376231.3:p.Arg312_Leu972delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysMetPhePhePheProSerSerAspSerThrLeuHisThrArgProProHisGlyAlaAlaProSerIleAspThrSerPheThrLeuSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753004" }, { "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000392437.6:c.988C>T" ], "proteinEffect": { "hgvs": "ENSP00000376232.2:p.Arg330Ter", "hgvsWellDefined": "ENSP00000376232.2:p.Arg330_Lys978delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753005" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000642289.1:c.1029C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766662" }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000642445.1:c.934C>T" ], "proteinEffect": { "hgvs": "ENSP00000495535.1:p.Arg312Ter", "hgvsWellDefined": "ENSP00000495535.1:p.Arg312_Leu972delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysMetPhePhePheProSerSerAspSerThrLeuHisThrArgProProHisGlyAlaAlaProSerIleAspThrSerPheThrLeuSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766749" }, { "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000642593.1:c.934C>T" ], "proteinEffect": { "hgvs": "ENSP00000494273.1:p.Arg312Ter", "hgvsWellDefined": "ENSP00000494273.1:p.Arg312_Glu569delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766828" }, { "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "C", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000643329.1:c.616C>T" ], "proteinEffect": { "hgvs": "ENSP00000493673.1:p.Arg206Ter", "hgvsWellDefined": "ENSP00000493673.1:p.Arg206_Lys854delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767218" }, { "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "C", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000643737.1:c.*1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000494210.1:n.*1015C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767444" }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000644595.1:c.934C>T" ], "proteinEffect": { "hgvs": "ENSP00000494121.1:p.Arg312Ter", "hgvsWellDefined": "ENSP00000494121.1:p.Arg312_Ser963delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuThrMetIleProAlaArgLeuTyrGluAsnGlnMetLysArgGlnIleTrpLysTyrIleValAspThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767893" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000644629.1:c.594C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767908" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000644841.1:c.562C>T" ], "proteinEffect": { "hgvs": "ENSP00000493988.1:p.Arg188Ter", "hgvsWellDefined": "ENSP00000493988.1:p.Arg188_Leu412delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysHisGlyGlySerHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768028" }, { "coordinates": [ { "allele": "T", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000644959.1:c.903C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768092" }, { "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "C", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000645553.1:c.949C>T" ], "proteinEffect": { "hgvs": "ENSP00000494725.1:p.Arg317Ter", "hgvsWellDefined": "ENSP00000494725.1:p.Arg317_Lys965delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768424" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646085.1:c.*412C>T" ], "proteinEffect": { "hgvs": "ENSP00000494509.1:n.*412C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768684" }, { "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646277.1:c.1099C>T" ], "proteinEffect": { "hgvs": "ENSP00000495289.1:p.Arg367Ter", "hgvsWellDefined": "ENSP00000495289.1:p.Arg367_Phe528delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnValSerPhePheTyrPhePheGlnMetAspLeuTrpMetLeuAsnAlaValLeuLeuGlnThrTrpSerValLysTrpThrLeuMetGluGlyGluProTyrSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768790" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646699.1:c.1029C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769018" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646793.1:c.826C>T" ], "proteinEffect": { "hgvs": "ENSP00000494512.1:p.Arg276Ter", "hgvsWellDefined": "ENSP00000494512.1:p.Arg276_Lys924delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769069" }, { "coordinates": [ { "allele": "T", "end": 1171, "referenceAllele": "C", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361150.6:c.937C>T" ], "proteinEffect": { "hgvs": "ENSP00000354781.2:p.Arg313Ter", "hgvsWellDefined": "ENSP00000354781.2:p.Arg313_Lys961delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265365" }, { "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361510.6:c.1099C>T" ], "proteinEffect": { "hgvs": "ENSP00000355324.2:p.Arg367Ter", "hgvsWellDefined": "ENSP00000355324.2:p.Arg367_Lys1015delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265514" }, { "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361715.6:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000355311.2:p.Arg331Ter", "hgvsWellDefined": "ENSP00000355311.2:p.Arg331_Lys979delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265615" }, { "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "C", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361828.6:c.988C>T" ], "proteinEffect": { "hgvs": "ENSP00000354429.2:p.Arg330Ter", "hgvsWellDefined": "ENSP00000354429.2:p.Arg330_Lys978delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265674" }, { "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "C", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361908.7:c.1045C>T" ], "proteinEffect": { "hgvs": "ENSP00000354681.3:p.Arg349Ter", "hgvsWellDefined": "ENSP00000354681.3:p.Arg349_Lys997delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265705" }, { "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000392438.7:c.934C>T" ], "proteinEffect": { "hgvs": "ENSP00000376233.3:p.Arg312Ter", "hgvsWellDefined": "ENSP00000376233.3:p.Arg312_Lys960delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275090" }, { "coordinates": [ { "allele": "T", "end": 130, "referenceAllele": "C", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000475899.1:n.130C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317083" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "C", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000495476.1:n.455C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332166" }, { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000497189.5:n.420C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS333478" }, { "@id": "http://reg.genome.network/allele/PA2829799744", "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_015560.2:c.934C>T", "LRG_337t1:c.934C>T" ], "proteinEffect": { "hgvs": "NP_056375.2:p.Arg312Ter", "hgvsWellDefined": "NP_056375.2:p.Arg312_Lys960delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034111" }, { "@id": "http://reg.genome.network/allele/PA2830179899", "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "C", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130831.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_570844.1:p.Arg276Ter", "hgvsWellDefined": "NP_570844.1:p.Arg276_Lys924delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040425" }, { "@id": "http://reg.genome.network/allele/PA2830180619", "coordinates": [ { "allele": "T", "end": 1114, "referenceAllele": "C", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130832.2:c.880C>T" ], "proteinEffect": { "hgvs": "NP_570845.1:p.Arg294Ter", "hgvsWellDefined": "NP_570845.1:p.Arg294_Lys942delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040426" }, { "@id": "http://reg.genome.network/allele/PA2830181367", "coordinates": [ { "allele": "T", "end": 1171, "referenceAllele": "C", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130833.2:c.937C>T" ], "proteinEffect": { "hgvs": "NP_570846.1:p.Arg313Ter", "hgvsWellDefined": "NP_570846.1:p.Arg313_Lys961delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040427" }, { "@id": "http://reg.genome.network/allele/PA2830182110", "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "C", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130834.2:c.988C>T" ], "proteinEffect": { "hgvs": "NP_570847.2:p.Arg330Ter", "hgvsWellDefined": "NP_570847.2:p.Arg330_Lys978delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040428" }, { "@id": "http://reg.genome.network/allele/PA2830182872", "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130835.2:c.991C>T" ], "proteinEffect": { "hgvs": "NP_570848.1:p.Arg331Ter", "hgvsWellDefined": "NP_570848.1:p.Arg331_Lys979delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040429" }, { "@id": "http://reg.genome.network/allele/PA2830183644", "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "C", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130836.2:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_570849.2:p.Arg349Ter", "hgvsWellDefined": "NP_570849.2:p.Arg349_Lys997delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040430" }, { "@id": "http://reg.genome.network/allele/PA2580505762", "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130837.2:c.1099C>T", "LRG_337t2:c.1099C>T" ], "proteinEffect": { "hgvs": "NP_570850.2:p.Arg367Ter", "hgvsWellDefined": "NP_570850.2:p.Arg367_Lys1015delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040431" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512863.1:c.1099C>T" ], "proteinEffect": { "hgvs": "XP_011511165.1:p.Arg367Ter", "hgvsWellDefined": "XP_011511165.1:p.Arg367_Ile1047delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080118" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512864.1:c.1045C>T" ], "proteinEffect": { "hgvs": "XP_011511166.1:p.Arg349Ter", "hgvsWellDefined": "XP_011511166.1:p.Arg349_Ile1029delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080119" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512865.1:c.988C>T" ], "proteinEffect": { "hgvs": "XP_011511167.1:p.Arg330Ter", "hgvsWellDefined": "XP_011511167.1:p.Arg330_Ile1010delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080120" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512866.1:c.937C>T" ], "proteinEffect": { "hgvs": "XP_011511168.1:p.Arg313Ter", "hgvsWellDefined": "XP_011511168.1:p.Arg313_Ile993delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080121" }, { "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512867.1:c.934C>T" ], "proteinEffect": { "hgvs": "XP_011511169.1:p.Arg312Ter", "hgvsWellDefined": "XP_011511169.1:p.Arg312_Ile992delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080122" }, { "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512868.1:c.826C>T" ], "proteinEffect": { "hgvs": "XP_011511170.1:p.Arg276Ter", "hgvsWellDefined": "XP_011511170.1:p.Arg276_Ile956delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080123" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512869.1:c.1099C>T" ], "proteinEffect": { "hgvs": "XP_011511171.1:p.Arg367Ter", "hgvsWellDefined": "XP_011511171.1:p.Arg367_Ile729delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValArgIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080124" }, { "@id": "http://reg.genome.network/allele/PA2827913888", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_001354663.1:c.565C>T" ], "proteinEffect": { "hgvs": "NP_001341592.1:p.Arg189Ter", "hgvsWellDefined": "NP_001341592.1:p.Arg189_Lys837delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522593" }, { "@id": "http://reg.genome.network/allele/PA2827914468", "coordinates": [ { "allele": "T", "end": 1226, "referenceAllele": "C", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_001354664.1:c.562C>T" ], "proteinEffect": { "hgvs": "NP_001341593.1:p.Arg188Ter", "hgvsWellDefined": "NP_001341593.1:p.Arg188_Lys836delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522594" }, { "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XR_001740158.2:n.1328C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590388" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XR_001740159.2:n.1163C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590389" }, { "@id": "http://reg.genome.network/allele/PA2827913888", "coordinates": [ { "allele": "T", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_001354663.2:c.565C>T" ], "proteinEffect": { "hgvs": "NP_001341592.1:p.Arg189Ter", "hgvsWellDefined": "NP_001341592.1:p.Arg189_Lys837delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690262" }, { "@id": "http://reg.genome.network/allele/PA2827914468", "coordinates": [ { "allele": "T", "end": 1162, "referenceAllele": "C", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_001354664.2:c.562C>T" ], "proteinEffect": { "hgvs": "NP_001341593.1:p.Arg188Ter", "hgvsWellDefined": "NP_001341593.1:p.Arg188_Lys836delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690263" }, { "@id": "http://reg.genome.network/allele/PA2830179899", "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "C", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130831.3:c.826C>T" ], "proteinEffect": { "hgvs": "NP_570844.1:p.Arg276Ter", "hgvsWellDefined": "NP_570844.1:p.Arg276_Lys924delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699611" }, { "@id": "http://reg.genome.network/allele/PA2830180619", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130832.3:c.880C>T" ], "proteinEffect": { "hgvs": "NP_570845.1:p.Arg294Ter", "hgvsWellDefined": "NP_570845.1:p.Arg294_Lys942delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699612" }, { "@id": "http://reg.genome.network/allele/PA2830182110", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130834.3:c.988C>T" ], "proteinEffect": { "hgvs": "NP_570847.2:p.Arg330Ter", "hgvsWellDefined": "NP_570847.2:p.Arg330_Lys978delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699613" }, { "@id": "http://reg.genome.network/allele/PA2830183644", "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130836.3:c.1045C>T" ], "proteinEffect": { "hgvs": "NP_570849.2:p.Arg349Ter", "hgvsWellDefined": "NP_570849.2:p.Arg349_Lys997delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699614" }, { "@id": "http://reg.genome.network/allele/PA2829799744", "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_015560.3:c.934C>T" ], "proteinEffect": { "hgvs": "NP_056375.2:p.Arg312Ter", "hgvsWellDefined": "NP_056375.2:p.Arg312_Lys960delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728091" }, { "@id": "http://reg.genome.network/allele/PA2830181367", "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130833.3:c.937C>T" ], "proteinEffect": { "hgvs": "NP_570846.1:p.Arg313Ter", "hgvsWellDefined": "NP_570846.1:p.Arg313_Lys961delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729086" }, { "@id": "http://reg.genome.network/allele/PA2830182872", "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130835.3:c.991C>T" ], "proteinEffect": { "hgvs": "NP_570848.1:p.Arg331Ter", "hgvsWellDefined": "NP_570848.1:p.Arg331_Lys979delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729087" }, { "@id": "http://reg.genome.network/allele/PA2580505762", "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130837.3:c.1099C>T" ], "proteinEffect": { "hgvs": "NP_570850.2:p.Arg367Ter", "hgvsWellDefined": "NP_570850.2:p.Arg367_Lys1015delinsIlePheProArgGlySerGlyGluMetMetThrArgSerProValLysValThrLeuSerGluGlyProHisHisValAlaLeuPheLysAspSerSerArgGluPheAspLeuThrLysGluGluAspLeuAlaAlaLeuArgHisGluIleGluLeuArgMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729088", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361510.8:c.1099C>T" }, "RefSeq": { "hgvs": "NM_130837.3:c.1099C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355324.2:p.Arg367Ter" }, "RefSeq": { "hgvs": "NP_570850.2:p.Arg367Ter" } } } } ], "type": "nucleotide" }