{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399505224", "communityStandardTitle": [ "NM_002230.4(JUP):c.370A>T (p.Lys124Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2787402[alleleid]", "alleleId": 2787402, "preferredName": "NM_002230.4(JUP):c.370A>T (p.Lys124Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2625419", "RCV": [ "RCV003380178" ], "variationId": 2625419 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39925768T>A?assembly=hg19", "id": "chr17:g.39925768T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41769516T>A?assembly=hg38", "id": "chr17:g.41769516T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1278511367", "rs": 1278511367 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 41769516, "referenceAllele": "T", "start": 41769515 } ], "hgvs": [ "NC_000017.11:g.41769516T>A", "CM000679.2:g.41769516T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 39925768, "referenceAllele": "T", "start": 39925767 } ], "hgvs": [ "NC_000017.10:g.39925768T>A", "CM000679.1:g.39925768T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 37179294, "referenceAllele": "T", "start": 37179293 } ], "hgvs": [ "NC_000017.9:g.37179294T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 22197, "referenceAllele": "A", "start": 22196 } ], "hgvs": [ "NG_009090.2:g.22197A>T", "LRG_401:g.22197A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "A", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.370A>T" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Lys124Ter", "hgvsWellDefined": "ENSP00000377508.3:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.370A>T" }, "RefSeq": { "hgvs": "NM_002230.4:c.370A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Lys124Ter" }, "RefSeq": { "hgvs": "NP_002221.1:p.Lys124Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "A", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.370A>T" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Lys124Ter", "hgvsWellDefined": "ENSP00000311113.5:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.370A>T" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Lys124Ter", "hgvsWellDefined": "ENSP00000377507.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "A", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.370A>T" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Lys124Ter", "hgvsWellDefined": "ENSP00000377508.3:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "A", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000420370.5:c.370A>T" ], "proteinEffect": { "hgvs": "ENSP00000411449.1:p.Lys124Ter", "hgvsWellDefined": "ENSP00000411449.1:p.Lys124_Leu277del" }, "referenceSequence": "http://reg.genome.network/refseq/RS286287" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "A", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000424457.5:c.370A>T" ], "proteinEffect": { "hgvs": "ENSP00000401034.1:p.Lys124Ter", "hgvsWellDefined": "ENSP00000401034.1:p.Lys124Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS288273" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "A", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000437187.5:c.370A>T" ], "proteinEffect": { "hgvs": "ENSP00000394146.1:p.Lys124Ter", "hgvsWellDefined": "ENSP00000394146.1:p.Lys124_Ala296del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294343" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "A", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000449889.5:c.370A>T" ], "proteinEffect": { "hgvs": "ENSP00000389886.1:p.Lys124Ter", "hgvsWellDefined": "ENSP00000389886.1:p.Lys124_Gly298del" }, "referenceSequence": "http://reg.genome.network/refseq/RS300436" }, { "@id": "http://reg.genome.network/allele/PA2829368202", "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "A", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.370A>T", "LRG_401t2:c.370A>T" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Lys124Ter", "hgvsWellDefined": "NP_002221.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA2741981176", "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "A", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.370A>T", "LRG_401t1:c.370A>T" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Lys124Ter", "hgvsWellDefined": "NP_068831.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "A", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Lys124Ter", "hgvsWellDefined": "XP_006721936.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Lys124Ter", "hgvsWellDefined": "XP_006721937.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "A", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Lys124Ter", "hgvsWellDefined": "XP_006721938.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "A", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Lys124Ter", "hgvsWellDefined": "XP_006721941.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "A", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Lys124Ter", "hgvsWellDefined": "XP_011523055.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "T", "end": 691, "referenceAllele": "A", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Lys124Ter", "hgvsWellDefined": "XP_011523056.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "A", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Lys124Ter", "hgvsWellDefined": "XP_011523057.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "A", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Lys124Ter", "hgvsWellDefined": "XP_011523058.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "A", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Lys124Ter", "hgvsWellDefined": "XP_011523059.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "A", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Lys124Ter", "hgvsWellDefined": "XP_011523060.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677491", "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "A", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339702.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678358", "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "A", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339703.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679226", "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "A", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339704.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680095", "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339705.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827680963", "coordinates": [ { "allele": "T", "end": 571, "referenceAllele": "A", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339706.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA2829368202", "coordinates": [ { "allele": "T", "end": 559, "referenceAllele": "A", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.370A>T" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Lys124Ter", "hgvsWellDefined": "NP_002221.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA2741981176", "coordinates": [ { "allele": "T", "end": 559, "referenceAllele": "A", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.370A>T" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Lys124Ter", "hgvsWellDefined": "NP_068831.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.370A>T" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Lys124Ter", "hgvsWellDefined": "XP_006721937.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "A", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.370A>T" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Lys124Ter", "hgvsWellDefined": "XP_011523055.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "A", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.421A>T" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Lys141Ter", "hgvsWellDefined": "XP_016880077.1:p.Lys141_Ala762delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "A", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.370A>T" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Lys124Ter", "hgvsWellDefined": "XP_016880079.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA2829368202", "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "A", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.370A>T" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Lys124Ter", "hgvsWellDefined": "NP_002221.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.370A>T" }, "RefSeq": { "hgvs": "NM_002230.4:c.370A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Lys124Ter" }, "RefSeq": { "hgvs": "NP_002221.1:p.Lys124Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677491", "coordinates": [ { "allele": "T", "end": 524, "referenceAllele": "A", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339702.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678358", "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "A", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339703.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679226", "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "A", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339704.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680095", "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "A", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339705.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827680963", "coordinates": [ { "allele": "T", "end": 452, "referenceAllele": "A", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.370A>T" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Lys124Ter", "hgvsWellDefined": "NP_001339706.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA2741981176", "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "A", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.370A>T" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Lys124Ter", "hgvsWellDefined": "NP_068831.1:p.Lys124_Ala745delinsSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }