{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388040975", "communityStandardTitle": [ "NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547243[alleleid]", "alleleId": 547243, "preferredName": "NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/556890", "RCV": [ "RCV000672954", "RCV003222092" ], "variationId": 556890 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.52548515G>A?assembly=hg19", "id": "chr13:g.52548515G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.51974379G>A?assembly=hg38", "id": "chr13:g.51974379G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555296356", "rs": 1555296356 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51974379, "referenceAllele": "G", "start": 51974378 } ], "hgvs": [ "NC_000013.11:g.51974379G>A", "CM000675.2:g.51974379G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 52548515, "referenceAllele": "G", "start": 52548514 } ], "hgvs": [ "NC_000013.10:g.52548515G>A", "CM000675.1:g.52548515G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51446516, "referenceAllele": "G", "start": 51446515 } ], "hgvs": [ "NC_000013.9:g.51446516G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 42116, "referenceAllele": "C", "start": 42115 } ], "hgvs": [ "NG_008806.1:g.42116C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001225" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.2:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000489512.2:p.Gln281Ter", "hgvsWellDefined": "ENSP00000489512.2:p.Gln281_Leu663delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysHisSerSerValGlyGlyThrSerThrPheArgProThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914381" }, { "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "C", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.2:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000501045.2:p.Gln281Ter", "hgvsWellDefined": "ENSP00000501045.2:p.Gln281_Gln497delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluThrGluCysCysCysValSerGlnAlaGlyLeuGluLeuLeuAlaSerSerAsnProProAlaSerAlaSerGlnSerAlaGlyIleAlaGlyValSerHisTyrAlaGlnProProSerTrpValLeuIleArgGlySerThrLysSerAspTyrIleLeuGluAspTrpCysGlyValThrValGlnCysProTrpArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914449" }, { "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.2:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.2:p.Gln281Ter", "hgvsWellDefined": "ENSP00000500964.2:p.Gln281_Ile1258delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914453" }, { "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.10:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.5:p.Gln281Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS741157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.841C>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.841C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Gln281Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Gln281Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.9:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Gln281Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Gln281_Ile1258delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748204" }, { "coordinates": [ { "allele": "T", "end": 802, "endIntronDirection": "+", "endIntronOffset": 39, "referenceAllele": "C", "start": 802, "startIntronDirection": "+", "startIntronOffset": 38 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.6:c.802+39C>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:n.802+39C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS753917" }, { "coordinates": [ { "allele": "T", "end": 1094, "referenceAllele": "C", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.7:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.3:p.Gln281Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS756171" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673772.1:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000501168.1:p.Gln281Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773858" }, { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674078.1:n.946C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774101" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.1:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.1:p.Gln133Ter", "hgvsWellDefined": "ENSP00000500964.1:p.Gln133_Ile1110delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774163" }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.8:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.4:p.Gln281Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS249232" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.8:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Gln281Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Gln281_Ile1258delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261940" }, { "coordinates": [ { "allele": "T", "end": 959, "endIntronDirection": "+", "endIntronOffset": 39, "referenceAllele": "C", "start": 959, "startIntronDirection": "+", "startIntronOffset": 38 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.5:c.802+39C>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:n.802+39C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS279007" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400370.8:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000383221.3:p.Gln281Ter", "hgvsWellDefined": "ENSP00000383221.3:p.Gln281_Ile1035delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279009" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000418097.7:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000393343.2:p.Gln281Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285231" }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.6:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.2:p.Gln281Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS299723" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000482841.6:n.962C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322439" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634308.1:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000489234.1:p.Gln281Ter", "hgvsWellDefined": "ENSP00000489234.1:p.Gln281_Arg894delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluGluIleGlyPheHisAlaSerLeuAlaGlnArgAsnProAsnAlaHisHisLeuAspHisLysMetGluIleLysGlnTrpLysLysSerPheLeuCysSerLeuValPheGlyIleProValMetAlaLeuMetIleTyrMetLeuIleProSerAsnGluProHisGlnSerMetValLeuAspHisAsnIleIleProGlyLeuSerIleLeuAsnLeuIlePhePheIleLeuCysThrPheValGlnSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProGlyGlyCysTrpGlnMetArgThrProThrSerThrSerProArgGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407771" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634844.1:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000489398.1:p.Gln281Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS407955" }, { "coordinates": [ { "allele": "T", "end": 211, "endIntronDirection": "-", "endIntronOffset": 27900, "referenceAllele": "C", "start": 211, "startIntronDirection": "-", "startIntronOffset": 27901 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000635406.1:n.212-27901C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS408123" }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, 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"NP_001005918.1:p.Gln281_Ile1258delinsLeuLeuGlyValGlnSerIleGlnValSerLeuGluAsnLysThrAlaGlnValLysTyrAspProSerCysThrSerProValAlaLeuGlnArgAlaIleGluAlaLeuProProGlyAsnPheLysValSerLeuProAspGlyAlaGluGlySerGlyThrAspHisArgSerSerSerSerHisSerProGlySerProProArgAsnGlnValGlnGlyThrCysSerThrThrLeuIleAlaIleAlaGlyMetThrCysAlaSerCysValHisSerIleGluGlyMetIleSerGlnLeuGluGlyValGlnGlnIleSerValSerLeuAlaGluGlyThrAlaThrValLeuTyrAsnProSerValIleSerProGluGluLeuArgAlaAlaIleGluAspMetGlyPheGluAlaSerValValSerGluSerCysSerThrAsnProLeuGlyAsnHisSerAlaGlyAsnSerMetValGlnThrThrAspGlyThrProThrSerValGlnGluValAlaProHisThrGlyArgLeuProAlaAsnHisAlaProAspIleLeuAlaLysSerProGlnSerThrArgAlaValAlaProGlnLysCysPheLeuGlnIleLysGlyMetThrCysAlaSerCysValSerAsnIleGluArgAsnLeuGlnLysGluAlaGlyValLeuSerValLeuValAlaLeuMetAlaGlyLysAlaGluIleLysTyrAspProGluValIleGlnProLeuGluIleAlaGlnPheIleGlnAspLeuGlyPheGluAlaAlaValMetGluAspTyrAlaGlySerAspGlyAsnIleGluLeuThrIleThrGlyMetThrCysAlaSerCysValHisAsnIleGluSerLysLeuThrArgThrAsnGlyIleThrTyrAlaSerValAlaLeuAlaThrSerLysAlaLeuValLysPheAspProGluIleIleGlyProArgAspIleIleLysIleIleGluSerLysThrSerGluAlaLeuAlaLysLeuMetSerLeuGlnAlaThrGluAlaThrValValThrLeuGlyGluAspAsnLeuIleIleArgGluGluGlnValProMetGluLeuValGlnArgGlyAspIleValLysValValProGlyGlyLysPheProValAspGlyLysValLeuGluGlyAsnThrMetAlaAspGluSerLeuIleThrGlyGluAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" 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