{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338246737", "communityStandardTitle": [ "NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2057271[alleleid]", "alleleId": 2057271, "preferredName": "NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1999337", "RCV": [ "RCV002819521" ], "variationId": 1999337 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.17319001C>A?assembly=hg19", "id": "chr1:g.17319001C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.16992506C>A?assembly=hg38", "id": "chr1:g.16992506C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2523315114", "rs": 2523315114 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-16992506-C-A?dataset=gnomad_r4", "id": "1-16992506-C-A", "variant": "1:16992506 C / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 16992506, "referenceAllele": "C", "start": 16992505 } ], "hgvs": [ "NC_000001.11:g.16992506C>A", "CM000663.2:g.16992506C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17319001, "referenceAllele": "C", "start": 17319000 } ], "hgvs": [ "NC_000001.10:g.17319001C>A", "CM000663.1:g.17319001C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17191588, "referenceAllele": "C", "start": 17191587 } ], "hgvs": [ "NC_000001.9:g.17191588C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 24423, "referenceAllele": "G", "start": 24422 } ], "hgvs": [ "NG_009054.1:g.24423G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001396" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2015, "referenceAllele": "G", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.13:c.1825G>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Glu609Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Glu609_Arg1180delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746785", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.1825G>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.1825G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Glu609Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Glu609Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "G", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.12:c.1825G>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Glu609Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Glu609_Arg1180delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258661" }, { "coordinates": [ { "allele": "T", "end": 1987, "referenceAllele": "G", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000341676.9:c.1810G>T" ], "proteinEffect": { "hgvs": "ENSP00000341115.5:p.Glu604Ter", "hgvsWellDefined": "ENSP00000341115.5:p.Glu604_Val1158delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261383" }, { "coordinates": [ { "allele": "T", "end": 2000, "referenceAllele": "G", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000452699.5:c.1810G>T" ], "proteinEffect": { "hgvs": "ENSP00000413307.1:p.Glu604Ter", "hgvsWellDefined": "ENSP00000413307.1:p.Glu604_Arg1175delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301738" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "G", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000503552.1:c.295G>T" ], "proteinEffect": { "hgvs": "ENSP00000421126.1:p.Glu99Ter", "hgvsWellDefined": "ENSP00000421126.1:p.Glu99_Ser258del" }, "referenceSequence": "http://reg.genome.network/refseq/RS335833" }, { "@id": "http://reg.genome.network/allele/PA2825835435", "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.2:c.1810G>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Glu604Ter", "hgvsWellDefined": "NP_001135445.1:p.Glu604_Arg1175delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012784" }, { "@id": "http://reg.genome.network/allele/PA2825836795", "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.2:c.1810G>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Glu604Ter", "hgvsWellDefined": "NP_001135446.1:p.Glu604_Val1158delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012785" }, { "@id": "http://reg.genome.network/allele/PA2580448015", "coordinates": [ { "allele": "T", "end": 2059, "referenceAllele": "G", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.3:c.1825G>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Glu609Ter", "hgvsWellDefined": "NP_071372.1:p.Glu609_Arg1180delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037187" }, { "coordinates": [ { "allele": "T", "end": 2059, "referenceAllele": "G", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245809.1:c.1825G>T" ], "proteinEffect": { "hgvs": "XP_005245866.1:p.Glu609Ter", "hgvsWellDefined": "XP_005245866.1:p.Glu609_Val1202delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057382" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245810.1:c.1822G>T" ], "proteinEffect": { "hgvs": "XP_005245867.1:p.Glu608Ter", "hgvsWellDefined": "XP_005245867.1:p.Glu608_Val1201delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057383" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245811.1:c.1810G>T" ], "proteinEffect": { "hgvs": "XP_005245868.1:p.Glu604Ter", "hgvsWellDefined": "XP_005245868.1:p.Glu604_Val1197delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057384" }, { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "G", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245812.1:c.1798G>T" ], "proteinEffect": { "hgvs": "XP_005245869.1:p.Glu600Ter", "hgvsWellDefined": "XP_005245869.1:p.Glu600_Val1193delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057385" }, { "coordinates": [ { "allele": "T", "end": 2059, "referenceAllele": "G", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245813.1:c.1825G>T" ], "proteinEffect": { "hgvs": "XP_005245870.1:p.Glu609Ter", "hgvsWellDefined": "XP_005245870.1:p.Glu609_Val1182delinsProGlnLeuGlnAlaMetArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057386" }, { "coordinates": [ { "allele": "T", "end": 2059, "referenceAllele": "G", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245815.1:c.1825G>T" ], "proteinEffect": { "hgvs": "XP_005245872.1:p.Glu609Ter", "hgvsWellDefined": "XP_005245872.1:p.Glu609_Val1163delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057387" }, { "coordinates": [ { "allele": "T", "end": 2041, "referenceAllele": "G", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710512.1:c.1807G>T" ], "proteinEffect": { "hgvs": "XP_006710575.1:p.Glu603Ter", "hgvsWellDefined": "XP_006710575.1:p.Glu603_Val1196delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068650" }, { "coordinates": [ { "allele": "T", "end": 2017, "referenceAllele": "G", "start": 2016 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710513.1:c.1783G>T" ], "proteinEffect": { "hgvs": "XP_006710576.1:p.Glu595Ter", "hgvsWellDefined": "XP_006710576.1:p.Glu595_Val1188delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068651" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541128.1:c.1810G>T" ], "proteinEffect": { "hgvs": "XP_011539430.1:p.Glu604Ter", "hgvsWellDefined": "XP_011539430.1:p.Glu604_Val1197delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108071" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541129.1:c.1618G>T" ], "proteinEffect": { "hgvs": "XP_011539431.1:p.Glu540Ter", "hgvsWellDefined": "XP_011539431.1:p.Glu540_Val1133delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108072" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000844.1:c.1810G>T" ], "proteinEffect": { "hgvs": "XP_016856333.1:p.Glu604Ter", "hgvsWellDefined": "XP_016856333.1:p.Glu604_Arg1175delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557124" }, { "coordinates": [ { "allele": "T", "end": 2041, "referenceAllele": "G", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000845.1:c.1807G>T" ], "proteinEffect": { "hgvs": "XP_016856334.1:p.Glu603Ter", "hgvsWellDefined": "XP_016856334.1:p.Glu603_Arg1174delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557125" }, { "coordinates": [ { "allele": "T", "end": 2017, "referenceAllele": "G", "start": 2016 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000846.1:c.1783G>T" ], "proteinEffect": { "hgvs": "XP_016856335.1:p.Glu595Ter", "hgvsWellDefined": "XP_016856335.1:p.Glu595_Arg1166delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557126" }, { "coordinates": [ { "allele": "T", "end": 2014, "referenceAllele": "G", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000847.1:c.1780G>T" ], "proteinEffect": { "hgvs": "XP_016856336.1:p.Glu594Ter", "hgvsWellDefined": "XP_016856336.1:p.Glu594_Arg1165delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557127" }, { "coordinates": [ { "allele": "T", "end": 2059, "referenceAllele": "G", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000848.1:c.1825G>T" ], "proteinEffect": { "hgvs": "XP_016856337.1:p.Glu609Ter", "hgvsWellDefined": "XP_016856337.1:p.Glu609_Arg1141delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557128" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000849.1:c.1810G>T" ], "proteinEffect": { "hgvs": "XP_016856338.1:p.Glu604Ter", "hgvsWellDefined": "XP_016856338.1:p.Glu604_Arg1136delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557129" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000850.1:c.1618G>T" ], "proteinEffect": { "hgvs": "XP_016856339.1:p.Glu540Ter", "hgvsWellDefined": "XP_016856339.1:p.Glu540_Arg1111delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557130" }, { "@id": "http://reg.genome.network/allele/PA2580448015", "coordinates": [ { "allele": "T", "end": 2015, "referenceAllele": "G", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.4:c.1825G>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Glu609Ter", "hgvsWellDefined": "NP_071372.1:p.Glu609_Arg1180delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670368", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.1825G>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.1825G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Glu609Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Glu609Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825835435", "coordinates": [ { "allele": "T", "end": 2000, "referenceAllele": "G", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.3:c.1810G>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Glu604Ter", "hgvsWellDefined": "NP_001135445.1:p.Glu604_Arg1175delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677479" }, { "@id": "http://reg.genome.network/allele/PA2825836795", "coordinates": [ { "allele": "T", "end": 2000, "referenceAllele": "G", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.3:c.1810G>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Glu604Ter", "hgvsWellDefined": "NP_001135446.1:p.Glu604_Val1158delinsProGlnLeuGlnAlaMetGluGluProProValProValSerValLeuHisArgPheProPheSerSerAlaLeuGlnArgMetSerValValValAlaTrpProGlyAlaThrGlnProGluAlaTyrValLysGlySerProGluLeuValAlaGlyLeuCysAsnProGluThrValProThrAspPheAlaGlnMetLeuGlnSerTyrThrAlaAlaGlyTyrArgValValAlaLeuAlaSerLysProLeuProThrValProSerLeuGluAlaAlaGlnGlnLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677480" } ], "type": "nucleotide" }