{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043961", "communityStandardTitle": [ "NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361795[alleleid]", "alleleId": 361795, "preferredName": "NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374890", "RCV": [ "RCV000415578" ], "variationId": 374890 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.17322757G>A?assembly=hg19", "id": "chr1:g.17322757G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.16996262G>A?assembly=hg38", "id": "chr1:g.16996262G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519293", "rs": 1057519293 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-17322757-G-A?dataset=gnomad_r2_1", "id": "1-17322757-G-A", "variant": "1:17322757 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-16996262-G-A?dataset=gnomad_r4", "id": "1-16996262-G-A", "variant": "1:16996262 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 16996262, "referenceAllele": "G", "start": 16996261 } ], "hgvs": [ "NC_000001.11:g.16996262G>A", "CM000663.2:g.16996262G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17322757, "referenceAllele": "G", "start": 17322756 } ], "hgvs": [ "NC_000001.10:g.17322757G>A", "CM000663.1:g.17322757G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17195344, "referenceAllele": "G", "start": 17195343 } ], "hgvs": [ "NC_000001.9:g.17195344G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 20667, "referenceAllele": "C", "start": 20666 } ], "hgvs": [ "NG_009054.1:g.20667C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001396" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.13:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Arg449Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Arg449_Arg1180delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746785", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.1345C>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.1345C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Arg449Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Arg449Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1379, "referenceAllele": "C", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.12:c.1345C>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Arg449Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Arg449_Arg1180delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258661" }, { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000341676.9:c.1330C>T" ], "proteinEffect": { "hgvs": "ENSP00000341115.5:p.Arg444Ter", "hgvsWellDefined": "ENSP00000341115.5:p.Arg444_Val1158delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261383" }, { "coordinates": [ { "allele": "T", "end": 1520, "referenceAllele": "C", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000452699.5:c.1330C>T" ], "proteinEffect": { "hgvs": "ENSP00000413307.1:p.Arg444Ter", "hgvsWellDefined": "ENSP00000413307.1:p.Arg444_Arg1175delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301738" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000463860.5:n.953C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307803" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000502860.1:n.373C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS335319" }, { "coordinates": [ { "allele": "T", "end": 22, "referenceAllele": "C", "start": 21 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000503552.1:c.22C>T" ], "proteinEffect": { "hgvs": "ENSP00000421126.1:p.Arg8Ter", "hgvsWellDefined": "ENSP00000421126.1:p.Arg8_Ser258del" }, "referenceSequence": "http://reg.genome.network/refseq/RS335833" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000506174.5:c.487C>T" ], "proteinEffect": { "hgvs": "ENSP00000424393.1:p.Arg163Ter", "hgvsWellDefined": "ENSP00000424393.1:p.Arg163_Met191del" }, "referenceSequence": "http://reg.genome.network/refseq/RS337773" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000509392.1:n.433C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS340168" }, { "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000617114.4:c.373C>T" ], "proteinEffect": { "hgvs": "ENSP00000478781.1:p.Arg125Ter", "hgvsWellDefined": "ENSP00000478781.1:p.Arg125_Val228delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysValGlyProGlnValGlyLeuValGlnGlySerGlyThrAlaThrGlyAlaProValArgProProHisProArgTyrSerLeuSerSerThrHisArgMetProGlyProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403341" }, { "@id": "http://reg.genome.network/allele/PA2825835318", "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.2:c.1330C>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Arg444Ter", "hgvsWellDefined": "NP_001135445.1:p.Arg444_Arg1175delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012784" }, { "@id": "http://reg.genome.network/allele/PA2825836617", "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.2:c.1330C>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Arg444Ter", "hgvsWellDefined": "NP_001135446.1:p.Arg444_Val1158delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012785" }, { "@id": "http://reg.genome.network/allele/PA645406735", "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.3:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Arg449Ter", "hgvsWellDefined": "NP_071372.1:p.Arg449_Arg1180delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037187" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245809.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_005245866.1:p.Arg449Ter", "hgvsWellDefined": "XP_005245866.1:p.Arg449_Val1202delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057382" }, { "coordinates": [ { "allele": "T", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245810.1:c.1342C>T" ], "proteinEffect": { "hgvs": "XP_005245867.1:p.Arg448Ter", "hgvsWellDefined": "XP_005245867.1:p.Arg448_Val1201delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057383" }, { "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245811.1:c.1330C>T" ], "proteinEffect": { "hgvs": "XP_005245868.1:p.Arg444Ter", "hgvsWellDefined": "XP_005245868.1:p.Arg444_Val1197delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057384" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245812.1:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_005245869.1:p.Arg440Ter", "hgvsWellDefined": "XP_005245869.1:p.Arg440_Val1193delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057385" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245813.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_005245870.1:p.Arg449Ter", "hgvsWellDefined": "XP_005245870.1:p.Arg449_Val1182delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057386" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245815.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_005245872.1:p.Arg449Ter", "hgvsWellDefined": "XP_005245872.1:p.Arg449_Val1163delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057387" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710512.1:c.1327C>T" ], "proteinEffect": { "hgvs": "XP_006710575.1:p.Arg443Ter", "hgvsWellDefined": "XP_006710575.1:p.Arg443_Val1196delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068650" }, { "coordinates": [ { "allele": "T", "end": 1537, "referenceAllele": "C", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710513.1:c.1303C>T" ], "proteinEffect": { "hgvs": "XP_006710576.1:p.Arg435Ter", "hgvsWellDefined": "XP_006710576.1:p.Arg435_Val1188delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068651" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541128.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_011539430.1:p.Arg449Ter", "hgvsWellDefined": "XP_011539430.1:p.Arg449_Val1197delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108071" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541129.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_011539431.1:p.Arg449Ter", "hgvsWellDefined": "XP_011539431.1:p.Arg449_Val1133delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108072" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000844.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_016856333.1:p.Arg449Ter", "hgvsWellDefined": "XP_016856333.1:p.Arg449_Arg1175delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557124" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000845.1:c.1327C>T" ], "proteinEffect": { "hgvs": "XP_016856334.1:p.Arg443Ter", "hgvsWellDefined": "XP_016856334.1:p.Arg443_Arg1174delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557125" }, { "coordinates": [ { "allele": "T", "end": 1537, "referenceAllele": "C", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000846.1:c.1303C>T" ], "proteinEffect": { "hgvs": "XP_016856335.1:p.Arg435Ter", "hgvsWellDefined": "XP_016856335.1:p.Arg435_Arg1166delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557126" }, { "coordinates": [ { "allele": "T", "end": 1549, "referenceAllele": "C", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000847.1:c.1315C>T" ], "proteinEffect": { "hgvs": "XP_016856336.1:p.Arg439Ter", "hgvsWellDefined": "XP_016856336.1:p.Arg439_Arg1165delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557127" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000848.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_016856337.1:p.Arg449Ter", "hgvsWellDefined": "XP_016856337.1:p.Arg449_Arg1141delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557128" }, { "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000849.1:c.1330C>T" ], "proteinEffect": { "hgvs": "XP_016856338.1:p.Arg444Ter", "hgvsWellDefined": "XP_016856338.1:p.Arg444_Arg1136delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557129" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000850.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_016856339.1:p.Arg449Ter", "hgvsWellDefined": "XP_016856339.1:p.Arg449_Arg1111delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557130" }, { "@id": "http://reg.genome.network/allele/PA645406735", "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.4:c.1345C>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Arg449Ter", "hgvsWellDefined": "NP_071372.1:p.Arg449_Arg1180delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670368", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.1345C>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.1345C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Arg449Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Arg449Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825835318", "coordinates": [ { "allele": "T", "end": 1520, "referenceAllele": "C", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.3:c.1330C>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Arg444Ter", "hgvsWellDefined": "NP_001135445.1:p.Arg444_Arg1175delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677479" }, { "@id": "http://reg.genome.network/allele/PA2825836617", "coordinates": [ { "allele": "T", "end": 1520, "referenceAllele": "C", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.3:c.1330C>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Arg444Ter", "hgvsWellDefined": "NP_001135446.1:p.Arg444_Val1158delinsAsnArgValProLeuAsnGluIleValIleArgAlaLeuAspLeuValThrValValValProProAlaLeuProAlaAlaMetThrValCysThrLeuTyrAlaGlnSerArgLeuArgArgGlnGlyIlePheCysIleHisProLeuArgIleAsnLeuGlyGlyLysLeuGlnLeuValCysPheAspLysThrGlyThrLeuThrGluAspGlyLeuAspValMetGlyValValProLeuLysGlyGlnAlaPheLeuProLeuValProGluProArgArgLeuProValGlyProLeuLeuArgAlaLeuAlaThrCysHisAlaLeuSerArgLeuGlnAspThrProValGlyAspProMetAspLeuLysMetValGluSerThrGlyTrpValLeuGluGluGluProAlaAlaAspSerAlaPheGlyThrGlnValLeuAlaValMetArgProProLeuTrpGluProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677480" } ], "type": "nucleotide" }