{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA223199", "communityStandardTitle": [ "NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20124[alleleid]", "alleleId": 20124, "preferredName": "NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5085", "RCV": [ "RCV000005390", "RCV000790742", "RCV003225922" ], "variationId": 5085 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.193360794C>T?assembly=hg19", "id": "chr3:g.193360794C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.193643005C>T?assembly=hg38", "id": "chr3:g.193643005C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104893753", "rs": 104893753 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-193643005-C-T?dataset=gnomad_r4", "id": "3-193643005-C-T", "variant": "3:193643005 C / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 193643005, "referenceAllele": "C", "start": 193643004 } ], "hgvs": [ "NC_000003.12:g.193643005C>T", "CM000665.2:g.193643005C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 193360794, "referenceAllele": "C", "start": 193360793 } ], "hgvs": [ "NC_000003.11:g.193360794C>T", "CM000665.1:g.193360794C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 194843488, "referenceAllele": "C", "start": 194843487 } ], "hgvs": [ "NC_000003.10:g.194843488C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 54862, "referenceAllele": "C", "start": 54861 } ], "hgvs": [ "NG_011605.1:g.54862C>T", "LRG_337:g.54862C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1431, "referenceAllele": "C", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361510.8:c.1261C>T" ], "proteinEffect": { "hgvs": "ENSP00000355324.2:p.Arg421Ter", "hgvsWellDefined": "ENSP00000355324.2:p.Arg421_Lys1015delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749487", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361510.8:c.1261C>T" }, "RefSeq": { "hgvs": "NM_130837.3:c.1261C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355324.2:p.Arg421Ter" }, "RefSeq": { "hgvs": "NP_570850.2:p.Arg421Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361828.7:c.1096C>T" ], "proteinEffect": { "hgvs": "ENSP00000354429.3:p.Arg366Ter", "hgvsWellDefined": "ENSP00000354429.3:p.Arg366_Lys960delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749547" }, { "coordinates": [ { "allele": "T", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361908.8:c.1207C>T" ], "proteinEffect": { "hgvs": "ENSP00000354681.3:p.Arg403Ter", "hgvsWellDefined": "ENSP00000354681.3:p.Arg403_Lys997delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749561" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000392436.7:c.1096C>T" ], "proteinEffect": { "hgvs": "ENSP00000376231.3:p.Arg366Ter", "hgvsWellDefined": "ENSP00000376231.3:p.Arg366_Leu972delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysMetPhePhePheProSerSerAspSerThrLeuHisThrArgProProHisGlyAlaAlaProSerIleAspThrSerPheThrLeuSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753004" }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "C", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000392437.6:c.1150C>T" ], "proteinEffect": { "hgvs": "ENSP00000376232.2:p.Arg384Ter", "hgvsWellDefined": "ENSP00000376232.2:p.Arg384_Lys978delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753005" }, { "coordinates": [ { "allele": "T", "end": 1079, "endIntronDirection": "-", "endIntronOffset": 367, "referenceAllele": "C", "start": 1079, "startIntronDirection": "-", "startIntronOffset": 368 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000642289.1:c.1080-368C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766662" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000642445.1:c.1096C>T" ], "proteinEffect": { "hgvs": "ENSP00000495535.1:p.Arg366Ter", "hgvsWellDefined": "ENSP00000495535.1:p.Arg366_Leu972delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysMetPhePhePheProSerSerAspSerThrLeuHisThrArgProProHisGlyAlaAlaProSerIleAspThrSerPheThrLeuSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766749" }, { "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000642593.1:c.1096C>T" ], "proteinEffect": { "hgvs": "ENSP00000494273.1:p.Arg366Ter", "hgvsWellDefined": "ENSP00000494273.1:p.Arg366_Glu569delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766828" }, { "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000643329.1:c.778C>T" ], "proteinEffect": { "hgvs": "ENSP00000493673.1:p.Arg260Ter", "hgvsWellDefined": "ENSP00000493673.1:p.Arg260_Lys854delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767218" }, { "coordinates": [ { "allele": "T", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000643737.1:c.*1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000494210.1:n.*1177C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767444" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000644595.1:c.1096C>T" ], "proteinEffect": { "hgvs": "ENSP00000494121.1:p.Arg366Ter", "hgvsWellDefined": "ENSP00000494121.1:p.Arg366_Ser963delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuThrMetIleProAlaArgLeuTyrGluAsnGlnMetLysArgGlnIleTrpLysTyrIleValAspThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767893" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000644629.1:c.756C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767908" }, { "coordinates": [ { "allele": "T", "end": 1314, "referenceAllele": "C", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000644841.1:c.724C>T" ], "proteinEffect": { "hgvs": "ENSP00000493988.1:p.Arg242Ter", "hgvsWellDefined": "ENSP00000493988.1:p.Arg242_Leu412delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysHisGlyGlySerHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768028" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000644959.1:c.1065C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768092" }, { "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000645553.1:c.1111C>T" ], "proteinEffect": { "hgvs": "ENSP00000494725.1:p.Arg371Ter", "hgvsWellDefined": "ENSP00000494725.1:p.Arg371_Lys965delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768424" }, { "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646085.1:c.*574C>T" ], "proteinEffect": { "hgvs": "ENSP00000494509.1:n.*574C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768684" }, { "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646277.1:c.1261C>T" ], "proteinEffect": { "hgvs": "ENSP00000495289.1:p.Arg421Ter", "hgvsWellDefined": "ENSP00000495289.1:p.Arg421_Phe528delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnValSerPhePheTyrPhePheGlnMetAspLeuTrpMetLeuAsnAlaValLeuLeuGlnThrTrpSerValLysTrpThrLeuMetGluGlyGluProTyrSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768790" }, { "coordinates": [ { "allele": "T", "end": 128, "endIntronDirection": "+", "endIntronOffset": 160, "referenceAllele": "C", "start": 128, "startIntronDirection": "+", "startIntronOffset": 159 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646544.1:c.128+160C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768932" }, { "coordinates": [ { "allele": "T", "end": 1079, "endIntronDirection": "-", "endIntronOffset": 367, "referenceAllele": "C", "start": 1079, "startIntronDirection": "-", "startIntronOffset": 368 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646699.1:c.1080-368C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769018" }, { "coordinates": [ { "allele": "T", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000646793.1:c.988C>T" ], "proteinEffect": { "hgvs": "ENSP00000494512.1:p.Arg330Ter", "hgvsWellDefined": "ENSP00000494512.1:p.Arg330_Lys924delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769069" }, { "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361150.6:c.1099C>T" ], "proteinEffect": { "hgvs": "ENSP00000354781.2:p.Arg367Ter", "hgvsWellDefined": "ENSP00000354781.2:p.Arg367_Lys961delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265365" }, { "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "C", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361510.6:c.1261C>T" ], "proteinEffect": { "hgvs": "ENSP00000355324.2:p.Arg421Ter", "hgvsWellDefined": "ENSP00000355324.2:p.Arg421_Lys1015delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265514" }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361715.6:c.1153C>T" ], "proteinEffect": { "hgvs": "ENSP00000355311.2:p.Arg385Ter", "hgvsWellDefined": "ENSP00000355311.2:p.Arg385_Lys979delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265615" }, { "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361828.6:c.1150C>T" ], "proteinEffect": { "hgvs": "ENSP00000354429.2:p.Arg384Ter", "hgvsWellDefined": "ENSP00000354429.2:p.Arg384_Lys978delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265674" }, { "coordinates": [ { "allele": "T", "end": 1441, "referenceAllele": "C", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000361908.7:c.1207C>T" ], "proteinEffect": { "hgvs": "ENSP00000354681.3:p.Arg403Ter", "hgvsWellDefined": "ENSP00000354681.3:p.Arg403_Lys997delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265705" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000392438.7:c.1096C>T" ], "proteinEffect": { "hgvs": "ENSP00000376233.3:p.Arg366Ter", "hgvsWellDefined": "ENSP00000376233.3:p.Arg366_Lys960delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275090" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "ENST00000475899.1:n.292C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317083" }, { "@id": "http://reg.genome.network/allele/PA223200", "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_015560.2:c.1096C>T", "LRG_337t1:c.1096C>T" ], "proteinEffect": { "hgvs": "NP_056375.2:p.Arg366Ter", "hgvsWellDefined": "NP_056375.2:p.Arg366_Lys960delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034111" }, { "@id": "http://reg.genome.network/allele/PA2830179940", "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "C", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130831.2:c.988C>T" ], "proteinEffect": { "hgvs": "NP_570844.1:p.Arg330Ter", "hgvsWellDefined": "NP_570844.1:p.Arg330_Lys924delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040425" }, { "@id": "http://reg.genome.network/allele/PA2830180660", "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130832.2:c.1042C>T" ], "proteinEffect": { "hgvs": "NP_570845.1:p.Arg348Ter", "hgvsWellDefined": "NP_570845.1:p.Arg348_Lys942delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040426" }, { "@id": "http://reg.genome.network/allele/PA2830181408", "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130833.2:c.1099C>T" ], "proteinEffect": { "hgvs": "NP_570846.1:p.Arg367Ter", "hgvsWellDefined": "NP_570846.1:p.Arg367_Lys961delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040427" }, { "@id": "http://reg.genome.network/allele/PA2830182151", "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130834.2:c.1150C>T" ], "proteinEffect": { "hgvs": "NP_570847.2:p.Arg384Ter", "hgvsWellDefined": "NP_570847.2:p.Arg384_Lys978delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040428" }, { "@id": "http://reg.genome.network/allele/PA2830182914", "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130835.2:c.1153C>T" ], "proteinEffect": { "hgvs": "NP_570848.1:p.Arg385Ter", "hgvsWellDefined": "NP_570848.1:p.Arg385_Lys979delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040429" }, { "@id": "http://reg.genome.network/allele/PA2830183685", "coordinates": [ { "allele": "T", "end": 1441, "referenceAllele": "C", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130836.2:c.1207C>T" ], "proteinEffect": { "hgvs": "NP_570849.2:p.Arg403Ter", "hgvsWellDefined": "NP_570849.2:p.Arg403_Lys997delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040430" }, { "@id": "http://reg.genome.network/allele/PA223203", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "C", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130837.2:c.1261C>T", "LRG_337t2:c.1261C>T" ], "proteinEffect": { "hgvs": "NP_570850.2:p.Arg421Ter", "hgvsWellDefined": "NP_570850.2:p.Arg421_Lys1015delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040431" }, { "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512863.1:c.1261C>T" ], "proteinEffect": { "hgvs": "XP_011511165.1:p.Arg421Ter", "hgvsWellDefined": "XP_011511165.1:p.Arg421_Ile1047delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080118" }, { "coordinates": [ { "allele": "T", "end": 1355, "referenceAllele": "C", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512864.1:c.1207C>T" ], "proteinEffect": { "hgvs": "XP_011511166.1:p.Arg403Ter", "hgvsWellDefined": "XP_011511166.1:p.Arg403_Ile1029delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080119" }, { "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512865.1:c.1150C>T" ], "proteinEffect": { "hgvs": "XP_011511167.1:p.Arg384Ter", "hgvsWellDefined": "XP_011511167.1:p.Arg384_Ile1010delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080120" }, { "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "C", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512866.1:c.1099C>T" ], "proteinEffect": { "hgvs": "XP_011511168.1:p.Arg367Ter", "hgvsWellDefined": "XP_011511168.1:p.Arg367_Ile993delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080121" }, { "coordinates": [ { "allele": "T", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512867.1:c.1096C>T" ], "proteinEffect": { "hgvs": "XP_011511169.1:p.Arg366Ter", "hgvsWellDefined": "XP_011511169.1:p.Arg366_Ile992delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080122" }, { "coordinates": [ { "allele": "T", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512868.1:c.988C>T" ], "proteinEffect": { "hgvs": "XP_011511170.1:p.Arg330Ter", "hgvsWellDefined": "XP_011511170.1:p.Arg330_Ile956delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuIleThrAspIlePheProSerAsnLeuLeuLeuValValMetLeuArgAspIleSerTrpAspCysMetValValAlaHisArgAspThrIleLeuSerGlyTrpGlyIleHisSerGluPheSerTyrProValThrMetHisHisGlySerIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080123" }, { "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XM_011512869.1:c.1261C>T" ], "proteinEffect": { "hgvs": "XP_011511171.1:p.Arg421Ter", "hgvsWellDefined": "XP_011511171.1:p.Arg421_Ile729delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValArgIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080124" }, { "@id": "http://reg.genome.network/allele/PA2827913930", "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_001354663.1:c.727C>T" ], "proteinEffect": { "hgvs": "NP_001341592.1:p.Arg243Ter", "hgvsWellDefined": "NP_001341592.1:p.Arg243_Lys837delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522593" }, { "@id": "http://reg.genome.network/allele/PA2827914509", "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_001354664.1:c.724C>T" ], "proteinEffect": { "hgvs": "NP_001341593.1:p.Arg242Ter", "hgvsWellDefined": "NP_001341593.1:p.Arg242_Lys836delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522594" }, { "coordinates": [ { "allele": "T", "end": 1490, "referenceAllele": "C", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XR_001740158.2:n.1490C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590388" }, { "coordinates": [ { "allele": "T", "end": 1325, "referenceAllele": "C", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "XR_001740159.2:n.1325C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590389" }, { "@id": "http://reg.genome.network/allele/PA2827913930", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_001354663.2:c.727C>T" ], "proteinEffect": { "hgvs": "NP_001341592.1:p.Arg243Ter", "hgvsWellDefined": "NP_001341592.1:p.Arg243_Lys837delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690262" }, { "@id": "http://reg.genome.network/allele/PA2827914509", "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_001354664.2:c.724C>T" ], "proteinEffect": { "hgvs": "NP_001341593.1:p.Arg242Ter", "hgvsWellDefined": "NP_001341593.1:p.Arg242_Lys836delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690263" }, { "@id": "http://reg.genome.network/allele/PA2830179940", "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130831.3:c.988C>T" ], "proteinEffect": { "hgvs": "NP_570844.1:p.Arg330Ter", "hgvsWellDefined": "NP_570844.1:p.Arg330_Lys924delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699611" }, { "@id": "http://reg.genome.network/allele/PA2830180660", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130832.3:c.1042C>T" ], "proteinEffect": { "hgvs": "NP_570845.1:p.Arg348Ter", "hgvsWellDefined": "NP_570845.1:p.Arg348_Lys942delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699612" }, { "@id": "http://reg.genome.network/allele/PA2830182151", "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "C", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130834.3:c.1150C>T" ], "proteinEffect": { "hgvs": "NP_570847.2:p.Arg384Ter", "hgvsWellDefined": "NP_570847.2:p.Arg384_Lys978delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699613" }, { "@id": "http://reg.genome.network/allele/PA2830183685", "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130836.3:c.1207C>T" ], "proteinEffect": { "hgvs": "NP_570849.2:p.Arg403Ter", "hgvsWellDefined": "NP_570849.2:p.Arg403_Lys997delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699614" }, { "@id": "http://reg.genome.network/allele/PA223200", "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "C", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_015560.3:c.1096C>T" ], "proteinEffect": { "hgvs": "NP_056375.2:p.Arg366Ter", "hgvsWellDefined": "NP_056375.2:p.Arg366_Lys960delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728091" }, { "@id": "http://reg.genome.network/allele/PA2830181408", "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130833.3:c.1099C>T" ], "proteinEffect": { "hgvs": "NP_570846.1:p.Arg367Ter", "hgvsWellDefined": "NP_570846.1:p.Arg367_Lys961delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729086" }, { "@id": "http://reg.genome.network/allele/PA2830182914", "coordinates": [ { "allele": "T", "end": 1323, "referenceAllele": "C", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130835.3:c.1153C>T" ], "proteinEffect": { "hgvs": "NP_570848.1:p.Arg385Ter", "hgvsWellDefined": "NP_570848.1:p.Arg385_Lys979delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729087" }, { "@id": "http://reg.genome.network/allele/PA223203", "coordinates": [ { "allele": "T", "end": 1431, "referenceAllele": "C", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN008140", "geneNCBI_id": 4976, "geneSymbol": "OPA1", "hgvs": [ "NM_130837.3:c.1261C>T" ], "proteinEffect": { "hgvs": "NP_570850.2:p.Arg421Ter", "hgvsWellDefined": "NP_570850.2:p.Arg421_Lys1015delinsMetArgLysAsnValLysGluGlyCysThrValSerProGluThrIleSerLeuAsnValLysGlyProGlyLeuGlnArgMetValLeuValAspLeuProGlyValIleAsnThrValThrSerGlyMetAlaProAspThrLysGluThrIlePheSerIleSerLysAlaTyrMetGlnAsnProAsnAlaIleIleLeuCysIleGlnAspGlySerValAspAlaGluArgSerIleValThrAspLeuValSerGlnMetAspProHisGlyArgArgThrIlePheValLeuThrLysValAspLeuAlaGluLysAsnValAlaSerProSerArgIleGlnGlnIleIleGluGlyLysLeuPheProMetLysAlaLeuGlyTyrPheAlaValValThrGlyLysGlyAsnSerSerGluSerIleGluAlaIleArgGluTyrGluGluGluPhePheGlnAsnSerLysLeuLeuLysThrSerMetLeuLysAlaHisGlnValThrThrArgAsnLeuSerLeuAlaValSerAspCysPheTrpLysMetValArgGluSerValGluGlnGlnAlaAspSerPheLysAlaThrArgPheAsnLeuGluThrGluTrpLysAsnAsnTyrProArgLeuArgGluLeuAspArgAsnGluLeuPheGluLysAlaLysAsnGluIleLeuAspGluValIleSerLeuSerGlnValThrProLysHisTrpGluGluIleLeuGlnGlnSerLeuTrpGluArgValSerThrHisValIleGluAsnIleTyrLeuProAlaAlaGlnThrMetAsnSerGlyThrPheAsnThrThrValAspIleLysLeuLysGlnTrpThrAspLysGlnLeuProAsnLysAlaValGluValAlaTrpGluThrLeuGlnGluGluPheSerArgPheMetThrGluProLysGlyLysGluHisAspAspIlePheAspLysLeuLysGluAlaValLysGluGluSerIleLysArgHisLysTrpAsnAspPheAlaGluAspSerLeuArgValIleGlnHisAsnAlaLeuGluAspArgSerIleSerAspLysGlnGlnTrpAspAlaAlaIleTyrPheMetGluGluAlaLeuGlnAlaArgLeuLysAspThrGluAsnAlaIleGluAsnMetValGlyProAspTrpLysLysArgTrpLeuTyrTrpLysAsnArgThrGlnGluGlnCysValHisAsnGluThrLysAsnGluLeuGluLysMetLeuLysCysAsnGluGluHisProAlaTyrLeuAlaSerAspGluIleThrThrValArgLysAsnLeuGluSerArgGlyValGluValAspProSerLeuIleLysAspThrTrpHisGlnValTyrArgArgHisPheLeuLysThrAlaLeuAsnHisCysAsnLeuCysArgArgGlyPheTyrTyrTyrGlnArgHisPheValAspSerGluLeuGluCysAsnAspValValLeuPheTrpArgIleGlnArgMetLeuAlaIleThrAlaAsnThrLeuArgGlnGlnLeuThrAsnThrGluValArgArgLeuGluLysAsnValLysGluValLeuGluAspPheAlaGluAspGlyGluLysLysIleLysLeuLeuThrGlyLysArgValGlnLeuAlaGluAspLeuLysLysValArgGluIleGlnGluLysLeuAspAlaPheIleGluAlaLeuHisGlnGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729088", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361510.8:c.1261C>T" }, "RefSeq": { "hgvs": "NM_130837.3:c.1261C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355324.2:p.Arg421Ter" }, "RefSeq": { "hgvs": "NP_570850.2:p.Arg421Ter" } } } } ], "type": "nucleotide" }