{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338258539", "communityStandardTitle": [ "NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2092924[alleleid]", "alleleId": 2092924, "preferredName": "NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2046647", "RCV": [ "RCV002913788", "RCV003111604" ], "variationId": 2046647 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.17326961C>T?assembly=hg19", "id": "chr1:g.17326961C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.17000466C>T?assembly=hg38", "id": "chr1:g.17000466C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1334843918", "rs": 1334843918 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-17326961-C-T?dataset=gnomad_r2_1", "id": "1-17326961-C-T", "variant": "1:17326961 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-17000466-C-T?dataset=gnomad_r3", "id": "1-17000466-C-T", "variant": "1:17000466 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-17000466-C-T?dataset=gnomad_r4", "id": "1-17000466-C-T", "variant": "1:17000466 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 17000466, "referenceAllele": "C", "start": 17000465 } ], "hgvs": [ "NC_000001.11:g.17000466C>T", "CM000663.2:g.17000466C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 17326961, "referenceAllele": "C", "start": 17326960 } ], "hgvs": [ "NC_000001.10:g.17326961C>T", "CM000663.1:g.17326961C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 17199548, "referenceAllele": "C", "start": 17199547 } ], "hgvs": [ "NC_000001.9:g.17199548C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 16463, "referenceAllele": "G", "start": 16462 } ], "hgvs": [ "NG_009054.1:g.16463G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001396" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 964, "referenceAllele": "G", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.13:c.774G>A" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Trp258Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Trp258_Arg1180delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746785", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.774G>A" }, "RefSeq": { "hgvs": "NM_022089.4:c.774G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Trp258Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Trp258Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.12:c.774G>A" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Trp258Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Trp258_Arg1180delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258661" }, { "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "G", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000341676.9:c.759G>A" ], "proteinEffect": { "hgvs": "ENSP00000341115.5:p.Trp253Ter", "hgvsWellDefined": "ENSP00000341115.5:p.Trp253_Val1158delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261383" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000452699.5:c.759G>A" ], "proteinEffect": { "hgvs": "ENSP00000413307.1:p.Trp253Ter", "hgvsWellDefined": "ENSP00000413307.1:p.Trp253_Arg1175delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301738" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "G", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000463860.5:n.382G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS307803" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000508222.5:c.466G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS339296" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "G", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000510069.5:c.697G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS340682" }, { "coordinates": [ { "allele": "A", "end": 459, "referenceAllele": "G", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000511957.5:c.459G>A" ], "proteinEffect": { "hgvs": "ENSP00000427241.1:p.Trp153Ter", "hgvsWellDefined": "ENSP00000427241.1:p.Trp153_Val190del" }, "referenceSequence": "http://reg.genome.network/refseq/RS342101" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000617114.4:c.-88G>A" ], "proteinEffect": { "hgvs": "ENSP00000478781.1:n.-88G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS403341" }, { "@id": "http://reg.genome.network/allele/PA2825835168", "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.2:c.759G>A" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Trp253Ter", "hgvsWellDefined": "NP_001135445.1:p.Trp253_Arg1175delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012784" }, { "@id": "http://reg.genome.network/allele/PA2825836373", "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.2:c.759G>A" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Trp253Ter", "hgvsWellDefined": "NP_001135446.1:p.Trp253_Val1158delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012785" }, { "@id": "http://reg.genome.network/allele/PA2580447939", "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.3:c.774G>A" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Trp258Ter", "hgvsWellDefined": "NP_071372.1:p.Trp258_Arg1180delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037187" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245809.1:c.774G>A" ], "proteinEffect": { "hgvs": "XP_005245866.1:p.Trp258Ter", "hgvsWellDefined": "XP_005245866.1:p.Trp258_Val1202delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057382" }, { "coordinates": [ { "allele": "A", "end": 1005, "referenceAllele": "G", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245810.1:c.771G>A" ], "proteinEffect": { "hgvs": "XP_005245867.1:p.Trp257Ter", "hgvsWellDefined": "XP_005245867.1:p.Trp257_Val1201delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057383" }, { "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245811.1:c.759G>A" ], "proteinEffect": { "hgvs": "XP_005245868.1:p.Trp253Ter", "hgvsWellDefined": "XP_005245868.1:p.Trp253_Val1197delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057384" }, { "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245812.1:c.747G>A" ], "proteinEffect": { "hgvs": "XP_005245869.1:p.Trp249Ter", "hgvsWellDefined": "XP_005245869.1:p.Trp249_Val1193delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057385" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245813.1:c.774G>A" ], "proteinEffect": { "hgvs": "XP_005245870.1:p.Trp258Ter", "hgvsWellDefined": "XP_005245870.1:p.Trp258_Val1182delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057386" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245815.1:c.774G>A" ], "proteinEffect": { "hgvs": "XP_005245872.1:p.Trp258Ter", "hgvsWellDefined": "XP_005245872.1:p.Trp258_Val1163delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057387" }, { "coordinates": [ { "allele": "A", "end": 990, "referenceAllele": "G", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710512.1:c.756G>A" ], "proteinEffect": { "hgvs": "XP_006710575.1:p.Trp252Ter", "hgvsWellDefined": "XP_006710575.1:p.Trp252_Val1196delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068650" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "G", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710513.1:c.732G>A" ], "proteinEffect": { "hgvs": "XP_006710576.1:p.Trp244Ter", "hgvsWellDefined": "XP_006710576.1:p.Trp244_Val1188delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068651" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541128.1:c.774G>A" ], "proteinEffect": { "hgvs": "XP_011539430.1:p.Trp258Ter", "hgvsWellDefined": "XP_011539430.1:p.Trp258_Val1197delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108071" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541129.1:c.774G>A" ], "proteinEffect": { "hgvs": "XP_011539431.1:p.Trp258Ter", "hgvsWellDefined": "XP_011539431.1:p.Trp258_Val1133delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108072" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000844.1:c.774G>A" ], "proteinEffect": { "hgvs": "XP_016856333.1:p.Trp258Ter", "hgvsWellDefined": "XP_016856333.1:p.Trp258_Arg1175delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557124" }, { "coordinates": [ { "allele": "A", "end": 990, "referenceAllele": "G", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000845.1:c.756G>A" ], "proteinEffect": { "hgvs": "XP_016856334.1:p.Trp252Ter", "hgvsWellDefined": "XP_016856334.1:p.Trp252_Arg1174delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557125" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "G", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000846.1:c.732G>A" ], "proteinEffect": { "hgvs": "XP_016856335.1:p.Trp244Ter", "hgvsWellDefined": "XP_016856335.1:p.Trp244_Arg1166delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557126" }, { "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000847.1:c.744G>A" ], "proteinEffect": { "hgvs": "XP_016856336.1:p.Trp248Ter", "hgvsWellDefined": "XP_016856336.1:p.Trp248_Arg1165delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557127" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000848.1:c.774G>A" ], "proteinEffect": { "hgvs": "XP_016856337.1:p.Trp258Ter", "hgvsWellDefined": "XP_016856337.1:p.Trp258_Arg1141delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557128" }, { "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000849.1:c.759G>A" ], "proteinEffect": { "hgvs": "XP_016856338.1:p.Trp253Ter", "hgvsWellDefined": "XP_016856338.1:p.Trp253_Arg1136delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557129" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000850.1:c.774G>A" ], "proteinEffect": { "hgvs": "XP_016856339.1:p.Trp258Ter", "hgvsWellDefined": "XP_016856339.1:p.Trp258_Arg1111delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557130" }, { "@id": "http://reg.genome.network/allele/PA2580447939", "coordinates": [ { "allele": "A", "end": 964, "referenceAllele": "G", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.4:c.774G>A" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Trp258Ter", "hgvsWellDefined": "NP_071372.1:p.Trp258_Arg1180delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670368", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.774G>A" }, "RefSeq": { "hgvs": "NM_022089.4:c.774G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Trp258Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Trp258Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825835168", "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.3:c.759G>A" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Trp253Ter", "hgvsWellDefined": "NP_001135445.1:p.Trp253_Arg1175delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677479" }, { "@id": "http://reg.genome.network/allele/PA2825836373", "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.3:c.759G>A" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Trp253Ter", "hgvsWellDefined": "NP_001135446.1:p.Trp253_Val1158delinsTyrAlaLeuCysIlePheLeuIleSerSerIleSerIleCysLeuSerLeuTyrLysThrArgLysGlnSerGlnThrLeuArgAspMetValLysLeuSerMetArgValCysValCysArgProGlyGlyGluGluGluTrpValAspSerSerGluLeuValProGlyAspCysLeuValLeuProGlnGluGlyGlyLeuMetProCysAspAlaAlaLeuValAlaGlyGluCysMetValAsnGluSerSerLeuThrGlyGluSerIleProValLeuLysThrAlaLeuProGluGlyLeuGlyProTyrCysAlaGluThrHisArgArgHisThrLeuPheCysGlyThrLeuIleLeuGlnAlaArgAlaTyrValGlyProHisValLeuAlaValValThrArgThrGlyPheCysThrAlaLysGlyGlyLeuValSerSerIleLeuHisProArgProIleAsnPheLysPheTyrLysHisSerMetLysPheValAlaAlaLeuSerValLeuAlaLeuLeuGlyThrIleTyrSerIlePheIleLeuTyrArgAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677480" } ], "type": "nucleotide" }