{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399506103", "communityStandardTitle": [ "NM_002230.4(JUP):c.222C>G (p.Tyr74Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1364243[alleleid]", "alleleId": 1364243, "preferredName": "NM_002230.4(JUP):c.222C>G (p.Tyr74Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1452523", "RCV": [ "RCV001999850" ], "variationId": 1452523 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39925916G>C?assembly=hg19", "id": "chr17:g.39925916G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41769664G>C?assembly=hg38", "id": "chr17:g.41769664G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2143697976", "rs": 2143697976 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 41769664, "referenceAllele": "G", "start": 41769663 } ], "hgvs": [ "NC_000017.11:g.41769664G>C", "CM000679.2:g.41769664G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 39925916, "referenceAllele": "G", "start": 39925915 } ], "hgvs": [ "NC_000017.10:g.39925916G>C", "CM000679.1:g.39925916G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 37179442, "referenceAllele": "G", "start": 37179441 } ], "hgvs": [ "NC_000017.9:g.37179442G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 22049, "referenceAllele": "C", "start": 22048 } ], "hgvs": [ "NG_009090.2:g.22049C>G", "LRG_401:g.22049C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000377508.3:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.222C>G" }, "RefSeq": { "hgvs": "NM_002230.4:c.222C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Tyr74Ter" }, "RefSeq": { "hgvs": "NP_002221.1:p.Tyr74Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000311113.5:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "G", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000377507.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "G", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000377508.3:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "coordinates": [ { "allele": "G", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000420370.5:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000411449.1:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000411449.1:p.Tyr74_Leu277del" }, "referenceSequence": "http://reg.genome.network/refseq/RS286287" }, { "coordinates": [ { "allele": "G", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000424457.5:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000401034.1:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000401034.1:p.Tyr74Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS288273" }, { "coordinates": [ { "allele": "G", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000437187.5:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000394146.1:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000394146.1:p.Tyr74_Ala296del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294343" }, { "coordinates": [ { "allele": "G", "end": 548, "referenceAllele": "C", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000437369.5:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000409948.1:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000409948.1:p.Tyr74Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS294432" }, { "coordinates": [ { "allele": "G", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000449889.5:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000389886.1:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000389886.1:p.Tyr74_Gly298del" }, "referenceSequence": "http://reg.genome.network/refseq/RS300436" }, { "coordinates": [ { "allele": "G", "end": 493, "referenceAllele": "C", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000591690.5:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000468347.1:p.Tyr74Ter", "hgvsWellDefined": "ENSP00000468347.1:p.Tyr74_Thr104del" }, "referenceSequence": "http://reg.genome.network/refseq/RS393048" }, { "@id": "http://reg.genome.network/allele/PA2829368126", "coordinates": [ { "allele": "G", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.222C>G", "LRG_401t2:c.222C>G" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Tyr74Ter", "hgvsWellDefined": "NP_002221.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA2573280507", "coordinates": [ { "allele": "G", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.222C>G", "LRG_401t1:c.222C>G" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Tyr74Ter", "hgvsWellDefined": "NP_068831.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Tyr74Ter", "hgvsWellDefined": "XP_006721936.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "G", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Tyr74Ter", "hgvsWellDefined": "XP_006721937.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "G", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Tyr74Ter", "hgvsWellDefined": "XP_006721938.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "G", "end": 418, "referenceAllele": "C", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Tyr74Ter", "hgvsWellDefined": "XP_006721941.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "G", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Tyr74Ter", "hgvsWellDefined": "XP_011523055.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "G", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Tyr74Ter", "hgvsWellDefined": "XP_011523056.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "G", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Tyr74Ter", "hgvsWellDefined": "XP_011523057.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "G", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Tyr74Ter", "hgvsWellDefined": "XP_011523058.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "G", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Tyr74Ter", "hgvsWellDefined": "XP_011523059.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "G", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Tyr74Ter", "hgvsWellDefined": "XP_011523060.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677432", "coordinates": [ { "allele": "G", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339702.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678300", "coordinates": [ { "allele": "G", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339703.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679168", "coordinates": [ { "allele": "G", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339704.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680036", "coordinates": [ { "allele": "G", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339705.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827680904", "coordinates": [ { "allele": "G", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339706.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA2829368126", "coordinates": [ { "allele": "G", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.222C>G" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Tyr74Ter", "hgvsWellDefined": "NP_002221.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA2573280507", "coordinates": [ { "allele": "G", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.222C>G" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Tyr74Ter", "hgvsWellDefined": "NP_068831.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "G", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.222C>G" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Tyr74Ter", "hgvsWellDefined": "XP_006721937.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "G", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.222C>G" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Tyr74Ter", "hgvsWellDefined": "XP_011523055.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "G", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.273C>G" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Tyr91Ter", "hgvsWellDefined": "XP_016880077.1:p.Tyr91_Ala762delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "G", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.222C>G" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Tyr74Ter", "hgvsWellDefined": "XP_016880079.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA2829368126", "coordinates": [ { "allele": "G", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.222C>G" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Tyr74Ter", "hgvsWellDefined": "NP_002221.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.222C>G" }, "RefSeq": { "hgvs": "NM_002230.4:c.222C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Tyr74Ter" }, "RefSeq": { "hgvs": "NP_002221.1:p.Tyr74Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677432", "coordinates": [ { "allele": "G", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339702.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678300", "coordinates": [ { "allele": "G", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339703.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679168", "coordinates": [ { "allele": "G", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339704.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680036", "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339705.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827680904", "coordinates": [ { "allele": "G", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.222C>G" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Tyr74Ter", "hgvsWellDefined": "NP_001339706.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA2573280507", "coordinates": [ { "allele": "G", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.222C>G" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Tyr74Ter", "hgvsWellDefined": "NP_068831.1:p.Tyr74_Ala745delinsGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }