{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3059058", "communityStandardTitle": [ "NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3008026", "active": true, "id": "COSM3008026" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=682119[alleleid]", "alleleId": 682119, "preferredName": "NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694273", "RCV": [ "RCV000855541", "RCV000856559", "RCV001796277", "RCV003768634" ], "variationId": 694273 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-120188514-C-T", "id": "4-120188514-C-T", "variant": "4:120188514 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.120188514C>T?assembly=hg19", "id": "chr4:g.120188514C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.119267359C>T?assembly=hg38", "id": "chr4:g.119267359C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/751511532", "rs": 751511532 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-120188514-C-T?dataset=gnomad_r2_1", "id": "4-120188514-C-T", "variant": "4:120188514 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-119267359-C-T?dataset=gnomad_r3", "id": "4-119267359-C-T", "variant": "4:119267359 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-119267359-C-T?dataset=gnomad_r4", "id": "4-119267359-C-T", "variant": "4:119267359 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 119267359, "referenceAllele": "C", "start": 119267358 } ], "hgvs": [ "NC_000004.12:g.119267359C>T", "CM000666.2:g.119267359C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 120188514, "referenceAllele": "C", "start": 120188513 } ], "hgvs": [ "NC_000004.11:g.120188514C>T", "CM000666.1:g.120188514C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 120407962, "referenceAllele": "C", "start": 120407961 } ], "hgvs": [ "NC_000004.10:g.120407962C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "ENST00000274030.11:c.1012C>T" ], "proteinEffect": { "hgvs": "ENSP00000274030.6:p.Arg338Ter", "hgvsWellDefined": "ENSP00000274030.6:p.Arg338_Ile800delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823668" }, { "coordinates": [ { "allele": "T", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "ENST00000450251.6:c.1012C>T" ], "proteinEffect": { "hgvs": "ENSP00000409906.1:p.Arg338Ter", "hgvsWellDefined": "ENSP00000409906.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825015" }, { "coordinates": [ { "allele": "T", "end": 1860, "referenceAllele": "C", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "ENST00000688980.1:c.1012C>T" ], "proteinEffect": { "hgvs": "ENSP00000509357.1:p.Arg338Ter", "hgvsWellDefined": "ENSP00000509357.1:p.Arg338_Phe768del" }, "referenceSequence": "http://reg.genome.network/refseq/RS831926" }, { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "ENST00000692078.1:c.1012C>T" ], "proteinEffect": { "hgvs": "ENSP00000509606.1:p.Arg338Ter", "hgvsWellDefined": "ENSP00000509606.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833534", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000692078.1:c.1012C>T" }, "RefSeq": { "hgvs": "NM_001371395.1:c.1012C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000509606.1:p.Arg338Ter" }, "RefSeq": { "hgvs": "NP_001358324.1:p.Arg338Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2191, "referenceAllele": "C", "start": 2190 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "ENST00000274030.10:c.1012C>T" ], "proteinEffect": { "hgvs": "ENSP00000274030.5:p.Arg338Ter", "hgvsWellDefined": "ENSP00000274030.5:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252505" }, { "coordinates": [ { "allele": "T", "end": 1556, "referenceAllele": "C", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "ENST00000450251.5:c.1012C>T" ], "proteinEffect": { "hgvs": "ENSP00000409906.1:p.Arg338Ter", "hgvsWellDefined": "ENSP00000409906.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300616" }, { "coordinates": [ { "allele": "T", "end": 112, "referenceAllele": "C", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "ENST00000507906.5:c.112C>T" ], "proteinEffect": { "hgvs": "ENSP00000421729.1:p.Arg38Ter", "hgvsWellDefined": "ENSP00000421729.1:p.Arg38_Met64delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339074" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "C", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "ENST00000509769.5:c.*62C>T" ], "proteinEffect": { "hgvs": "ENSP00000426628.1:n.*62C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS340463" }, { "@id": "http://reg.genome.network/allele/PA916069902", "coordinates": [ { "allele": "T", "end": 2078, "referenceAllele": "C", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_019050.2:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_061923.2:p.Arg338Ter", "hgvsWellDefined": "NP_061923.2:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036046" }, { "coordinates": [ { "allele": "T", "end": 1916, "referenceAllele": "C", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263073.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005263130.1:p.Arg338Ter", "hgvsWellDefined": "XP_005263130.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063659" }, { "coordinates": [ { "allele": "T", "end": 1596, "referenceAllele": "C", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263074.3:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005263131.1:p.Arg338Ter", "hgvsWellDefined": "XP_005263131.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063660" }, { "coordinates": [ { "allele": "T", "end": 1928, "referenceAllele": "C", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263075.1:c.862C>T" ], "proteinEffect": { "hgvs": "XP_005263132.1:p.Arg288Ter", "hgvsWellDefined": "XP_005263132.1:p.Arg288_Ser1023delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063661" }, { "coordinates": [ { "allele": "T", "end": 2078, "referenceAllele": "C", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263076.1:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005263133.1:p.Arg338Ter", "hgvsWellDefined": "XP_005263133.1:p.Arg338_Ser1022delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063662" }, { "coordinates": [ { "allele": "T", "end": 2078, "referenceAllele": "C", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263077.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005263134.1:p.Arg338Ter", "hgvsWellDefined": "XP_005263134.1:p.Arg338_Ile800delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063663" }, { "coordinates": [ { "allele": "T", "end": 2078, "referenceAllele": "C", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263078.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005263135.1:p.Arg338Ter", "hgvsWellDefined": "XP_005263135.1:p.Arg338_Leu488delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgGlyIleCysLeuValThrThrArgTrpLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063664" }, { "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_006714240.1:c.664C>T" ], "proteinEffect": { "hgvs": "XP_006714303.1:p.Arg222Ter", "hgvsWellDefined": "XP_006714303.1:p.Arg222_Ser957delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070564" }, { "coordinates": [ { "allele": "T", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_011532037.1:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_011530339.1:p.Arg338Ter", "hgvsWellDefined": "XP_011530339.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099065" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_011532038.1:c.664C>T" ], "proteinEffect": { "hgvs": "XP_011530340.1:p.Arg222Ter", "hgvsWellDefined": "XP_011530340.1:p.Arg222_Ser957delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099066" }, { "coordinates": [ { "allele": "T", "end": 1910, "referenceAllele": "C", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263073.4:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005263130.1:p.Arg338Ter", "hgvsWellDefined": "XP_005263130.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535593" }, { "coordinates": [ { "allele": "T", "end": 1928, "referenceAllele": "C", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263075.3:c.862C>T" ], "proteinEffect": { "hgvs": "XP_005263132.1:p.Arg288Ter", "hgvsWellDefined": "XP_005263132.1:p.Arg288_Ser1023delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535594" }, { "coordinates": [ { "allele": "T", "end": 2078, "referenceAllele": "C", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263076.3:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005263133.1:p.Arg338Ter", "hgvsWellDefined": "XP_005263133.1:p.Arg338_Ser1022delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535595" }, { "coordinates": [ { "allele": "T", "end": 2078, "referenceAllele": "C", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_005263077.4:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_005263134.1:p.Arg338Ter", "hgvsWellDefined": "XP_005263134.1:p.Arg338_Ile800delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535596" }, { "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "C", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_011532037.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_011530339.1:p.Arg338Ter", "hgvsWellDefined": "XP_011530339.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550662" }, { "coordinates": [ { "allele": "T", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_011532038.2:c.664C>T" ], "proteinEffect": { "hgvs": "XP_011530340.1:p.Arg222Ter", "hgvsWellDefined": "XP_011530340.1:p.Arg222_Ser957delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550663" }, { "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "C", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_017008312.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_016863801.1:p.Arg338Ter", "hgvsWellDefined": "XP_016863801.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562842" }, { "coordinates": [ { "allele": "T", "end": 1929, "referenceAllele": "C", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_017008313.1:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_016863802.1:p.Arg338Ter", "hgvsWellDefined": "XP_016863802.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562843" }, { "coordinates": [ { "allele": "T", "end": 1928, "referenceAllele": "C", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_017008314.1:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_016863803.1:p.Arg338Ter", "hgvsWellDefined": "XP_016863803.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562844" }, { "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_017008315.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_016863804.1:p.Arg338Ter", "hgvsWellDefined": "XP_016863804.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562845" }, { "coordinates": [ { "allele": "T", "end": 1910, "referenceAllele": "C", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_017008316.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_016863805.1:p.Arg338Ter", "hgvsWellDefined": "XP_016863805.1:p.Arg338_Ser1022delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562846" }, { "coordinates": [ { "allele": "T", "end": 1910, "referenceAllele": "C", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_017008317.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_016863806.1:p.Arg338Ter", "hgvsWellDefined": "XP_016863806.1:p.Arg338_Ile800delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562847" }, { "coordinates": [ { "allele": "T", "end": 2062, "referenceAllele": "C", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "XM_017008318.2:c.1012C>T" ], "proteinEffect": { "hgvs": "XP_016863807.1:p.Arg338Ter", "hgvsWellDefined": "XP_016863807.1:p.Arg338_Ile800delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562848" }, { "@id": "http://reg.genome.network/allele/PA2828483144", "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001371395.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001358324.1:p.Arg338Ter", "hgvsWellDefined": "NP_001358324.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692879", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000692078.1:c.1012C>T" }, "RefSeq": { "hgvs": "NM_001371395.1:c.1012C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000509606.1:p.Arg338Ter" }, "RefSeq": { "hgvs": "NP_001358324.1:p.Arg338Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828483358", "coordinates": [ { "allele": "T", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001371396.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001358325.1:p.Arg338Ter", "hgvsWellDefined": "NP_001358325.1:p.Arg338_Ser1022delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692880" }, { "@id": "http://reg.genome.network/allele/PA2828483543", "coordinates": [ { "allele": "T", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001371397.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001358326.1:p.Arg338Ter", "hgvsWellDefined": "NP_001358326.1:p.Arg338_Ile800delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692881" }, { "@id": "http://reg.genome.network/allele/PA2828483707", "coordinates": [ { "allele": "T", "end": 1961, "referenceAllele": "C", "start": 1960 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001371398.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001358327.1:p.Arg338Ter", "hgvsWellDefined": "NP_001358327.1:p.Arg338_Ile800delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692882" }, { "@id": "http://reg.genome.network/allele/PA2828483891", "coordinates": [ { "allele": "T", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001371399.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001358328.1:p.Arg338Ter", "hgvsWellDefined": "NP_001358328.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692883" }, { "@id": "http://reg.genome.network/allele/PA2829184358", "coordinates": [ { "allele": "T", "end": 1961, "referenceAllele": "C", "start": 1960 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389658.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001376587.1:p.Arg338Ter", "hgvsWellDefined": "NP_001376587.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726249" }, { "@id": "http://reg.genome.network/allele/PA2829184461", "coordinates": [ { "allele": "T", "end": 1837, "referenceAllele": "C", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389659.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001376588.1:p.Arg338Ter", "hgvsWellDefined": "NP_001376588.1:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726250" }, { "@id": "http://reg.genome.network/allele/PA2829184557", "coordinates": [ { "allele": "T", "end": 1689, "referenceAllele": "C", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389660.1:c.862C>T" ], "proteinEffect": { "hgvs": "NP_001376589.1:p.Arg288Ter", "hgvsWellDefined": "NP_001376589.1:p.Arg288_Ser1023delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726251" }, { "@id": "http://reg.genome.network/allele/PA2829184658", "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "C", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389661.1:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_001376590.1:p.Arg338Ter", "hgvsWellDefined": "NP_001376590.1:p.Arg338_Ser1022delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726252" }, { "@id": "http://reg.genome.network/allele/PA2829184740", "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389662.1:c.664C>T" ], "proteinEffect": { "hgvs": "NP_001376591.1:p.Arg222Ter", "hgvsWellDefined": "NP_001376591.1:p.Arg222_Ser957delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726253" }, { "@id": "http://reg.genome.network/allele/PA2829184828", "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389663.1:c.664C>T" ], "proteinEffect": { "hgvs": "NP_001376592.1:p.Arg222Ter", "hgvsWellDefined": "NP_001376592.1:p.Arg222_Ser957delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726254" }, { "@id": "http://reg.genome.network/allele/PA2829184916", "coordinates": [ { "allele": "T", "end": 1275, "referenceAllele": "C", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389664.1:c.664C>T" ], "proteinEffect": { "hgvs": "NP_001376593.1:p.Arg222Ter", "hgvsWellDefined": "NP_001376593.1:p.Arg222_Ser957delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726255" }, { "@id": "http://reg.genome.network/allele/PA2829185003", "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389665.1:c.664C>T" ], "proteinEffect": { "hgvs": "NP_001376594.1:p.Arg222Ter", "hgvsWellDefined": "NP_001376594.1:p.Arg222_Ser906delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726256" }, { "@id": "http://reg.genome.network/allele/PA2829185085", "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "C", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389666.1:c.664C>T" ], "proteinEffect": { "hgvs": "NP_001376595.1:p.Arg222Ter", "hgvsWellDefined": "NP_001376595.1:p.Arg222_Ile684delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726257" }, { "@id": "http://reg.genome.network/allele/PA2829185148", "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_001389667.1:c.664C>T" ], "proteinEffect": { "hgvs": "NP_001376596.1:p.Arg222Ter", "hgvsWellDefined": "NP_001376596.1:p.Arg222_Ile633delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluAspHisMetTyrMetLysThrMetGluSerTyrPheLeuHisProValTyrLysTyrProArgThrIleMetGlnGluAsnIleSerThrSerGlnMetAsnArgAsnLeuLysAsnArgMetAsnAlaAsnPheLeuSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726258" }, { "@id": "http://reg.genome.network/allele/PA916069902", "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "C", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN029255", "geneNCBI_id": 54532, "geneSymbol": "USP53", "hgvs": [ "NM_019050.3:c.1012C>T" ], "proteinEffect": { "hgvs": "NP_061923.2:p.Arg338Ter", "hgvsWellDefined": "NP_061923.2:p.Arg338_Ser1073delinsCysHisPheGlnProLeuLeuLeuPheTyrAlaAsnProAspGlyThrAlaValSerThrGluAspAlaLeuArgGlnValIleSerTrpSerHisTyrLysSerValAlaGluAsnMetGlyCysGluLysProValIleHisLysSerAspAsnLeuLysGluAsnGlyPheGlyAspGlnAlaLysGlnArgGluAsnGlnLysPheProThrAspAsnIleSerSerSerAsnArgSerHisSerHisThrGlyValGlyLysGlyProAlaLysLeuSerHisIleAspGlnArgGluLysIleLysAspIleSerArgGluCysAlaLeuLysAlaIleGluGlnLysAsnLeuLeuSerSerGlnArgLysAspLeuGluLysGlyGlnArgLysAspLeuGlyArgHisArgAspLeuValAspGluAspLeuSerHisPheGlnSerGlySerProProAlaProAsnGlyPheLysGlnHisGlyAsnProHisLeuTyrHisSerGlnGlyLysGlySerTyrLysHisAspArgValValProGlnSerArgAlaSerAlaGlnIleIleSerSerSerLysSerGlnIleLeuAlaProGlyGluLysIleThrGlyLysValLysSerAspAsnGlyThrGlyTyrAspThrAspSerSerGlnAspSerArgAspArgGlyAsnSerCysAspSerSerSerLysSerArgAsnArgGlyTrpLysProMetArgGluThrLeuAsnValAspSerIlePheSerGluSerGluLysArgGlnHisSerProArgHisLysProAsnIleSerAsnLysProLysSerSerLysAspProSerPheSerAsnTrpProLysGluAsnProLysGlnLysGlyLeuMetThrIleTyrGluAspGluMetLysGlnGluIleGlySerArgSerSerLeuGluSerAsnGlyLysGlyAlaGluLysAsnLysGlyLeuValGluGlyLysValHisGlyAspAsnTrpGlnMetGlnArgThrGluSerGlyTyrGluSerSerAspHisIleSerAsnGlySerThrAsnLeuAspSerProValIleAspGlyAsnGlyThrValMetAspIleSerGlyValLysGluThrValCysPheSerAspGlnIleThrThrSerAsnLeuAsnLysGluArgGlyAspCysThrSerLeuGlnSerGlnHisHisLeuGluGlyPheArgLysGluLeuArgAsnLeuGluAlaGlyTyrLysSerHisGluPheHisProGluSerHisLeuGlnIleLysAsnHisLeuIleLysArgSerHisValHisGluAspAsnGlyLysLeuPheProSerSerSerLeuGlnIleProLysAspHisAsnAlaArgGluHisIleHisGlnSerAspGluGlnLysLeuGluLysProAsnGluCysLysPheSerGluTrpLeuAsnIleGluAsnSerGluArgThrGlyLeuProPheHisValAspAsnSerAlaSerGlyLysArgValAsnSerAsnGluProSerSerLeuTrpSerSerHisLeuArgThrValGlyLeuLysProGluThrAlaProLeuIleGlnGlnGlnAsnIleMetAspGlnCysTyrPheGluAsnSerLeuSerThrGluCysIleIleArgSerAlaSerArgSerAspGlyCysGlnMetProLysLeuPheCysGlnAsnLeuProProProLeuProProLysLysTyrAlaIleThrSerValProGlnSerGluLysSerGluSerThrProAspValLysLeuThrGluValPheLysAlaThrSerHisLeuProLysHisSerLeuSerThrAlaSerGluProSerLeuGluValSerThrHisMetAsnAspGluArgHisLysGluThrPheGlnValArgGluCysPheGlyAsnThrProAsnCysProSerSerSerSerThrAsnAspPheGlnAlaAsnSerGlyAlaIleAspAlaPheCysGlnProGluLeuAspSerIleSerThrCysProAsnGluThrValSerLeuThrThrTyrPheSerValAspSerCysMetThrAspThrTyrArgLeuLysTyrHisGlnArgProLysLeuSerPheProGluSerSerGlyPheCysAsnAsnSerLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728386" } ], "type": "nucleotide" }