{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393761144", "communityStandardTitle": [ "NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1464550[alleleid]", "alleleId": 1464550, "preferredName": "NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1455434", "RCV": [ "RCV001970028", "RCV003490974" ], "variationId": 1455434 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89870271C>T?assembly=hg19", "id": "chr15:g.89870271C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89327040C>T?assembly=hg38", "id": "chr15:g.89327040C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2055531147", "rs": 2055531147 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89327040-C-T?dataset=gnomad_r4", "id": "15-89327040-C-T", "variant": "15:89327040 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89327040, "referenceAllele": "C", "start": 89327039 } ], "hgvs": [ "NC_000015.10:g.89327040C>T", "CM000677.2:g.89327040C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89870271, "referenceAllele": "C", "start": 89870270 } ], "hgvs": [ "NC_000015.9:g.89870271C>T", "CM000677.1:g.89870271C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 87671275, "referenceAllele": "C", "start": 87671274 } ], "hgvs": [ "NC_000015.8:g.87671275C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 12756, "referenceAllele": "G", "start": 12755 } ], "hgvs": [ "NG_008218.1:g.12756G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "A", "end": 12756, "referenceAllele": "G", "start": 12755 } ], "hgvs": [ "NG_008218.2:g.12756G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2401, "referenceAllele": "G", "start": 2400 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.1457G>A" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Trp486Ter", "hgvsWellDefined": "ENSP00000516154.1:p.Trp486_Pro1239delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "A", "end": 1768, "referenceAllele": "G", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.1457G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Trp486Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.1457G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.1457G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Trp486Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Trp486Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.1058G>A" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Trp353Ter", "hgvsWellDefined": "ENSP00000432885.2:p.Trp353_Gly1035delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrSerLysIleProSerSerTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "A", "end": 1655, "referenceAllele": "G", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.1457G>A" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:p.Trp486Ter", "hgvsWellDefined": "ENSP00000490653.2:p.Trp486_His995delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "A", "end": 1784, "referenceAllele": "G", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*24G>A" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*24G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "A", "end": 194, "referenceAllele": "G", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.194G>A" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:p.Trp65Ter", "hgvsWellDefined": "ENSP00000490756.1:p.Trp65_Ser233delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGluProSerSerProCysThrGlySerThrValSerAsnArgGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.529G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.1034G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "A", "end": 1655, "referenceAllele": "G", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.1655G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "A", "end": 1560, "referenceAllele": "G", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.1560G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "A", "end": 1791, "referenceAllele": "G", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.1457G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Trp486Ter", "hgvsWellDefined": "ENSP00000268124.5:p.Trp486_Pro1239delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "A", "end": 1793, "referenceAllele": "G", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.1457G>A" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Trp486Ter", "hgvsWellDefined": "ENSP00000399851.2:p.Trp486_Pro1239delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "G", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000532363.2:n.418G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357306" }, { "coordinates": [ { "allele": "A", "end": 1918, "referenceAllele": "G", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*840G>A" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*840G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825621004", "coordinates": [ { "allele": "A", "end": 1727, "referenceAllele": "G", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.1457G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Trp486Ter", "hgvsWellDefined": "NP_001119603.1:p.Trp486_Pro1239delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA2573227098", "coordinates": [ { "allele": "A", "end": 1739, "referenceAllele": "G", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.1457G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Trp486Ter", "hgvsWellDefined": "NP_002684.1:p.Trp486_Pro1239delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825621004", "coordinates": [ { "allele": "A", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.1457G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Trp486Ter", "hgvsWellDefined": "NP_001119603.1:p.Trp486_Pro1239delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA2573227098", "coordinates": [ { "allele": "A", "end": 1768, "referenceAllele": "G", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.1457G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Trp486Ter", "hgvsWellDefined": "NP_002684.1:p.Trp486_Pro1239delinsAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.1457G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.1457G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Trp486Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Trp486Ter" } } } } ], "type": "nucleotide" }