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EP400 Online
CURRENT DOCUMENTEP400 variant landscapeNM_015409.5 · 3,159 aa
22 variants2 phenotypes4 domainsQC passed
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EP400 protein variant map Protein variant map for EP400 with 22 unique variants and 4 functional domains. EP400 protein variant map Protein length: 3,159 amino acids · 22 unique variants · Transcript: NM_015409.5 VARIANT TYPE · SHAPE Missense (19) Frameshift (2) Splice (1) PHENOTYPE · COLOR Epilepsy and NDD NDD Compound heterozygous pair Pair-01: p.Ser125Pro and p.Asp997Asn Compound heterozygous pair Pair-02: p.Thr137Met and p.Gly2264Ser Compound heterozygous pair Pair-03: p.Pro155Ser and p.Tyr371Cys Compound heterozygous pair Pair-04: p.Pro155Ser and p.Asn2682Ser Compound heterozygous pair Pair-05: p.Arg324Gly and p.Gln2423Lys Compound heterozygous pair Pair-06: c.2550+3 and p.Lys941Glu Compound heterozygous pair Pair-07: p.Arg1176Cys and p.Glu2170Lys Compound heterozygous pair Pair-08: p.Glu2087Asp and p.Val2829Leu Compound heterozygous pair Pair-09: p.Gly2088Trp and p.Ser2823Asn Compound heterozygous pair Pair-10: p.Pro2819Leu and p.Ile3051ThrfsTer4 p.Ser125Pro p.Ser125Pro; Missense; Epilepsy and NDD; amino acid 125 p.Thr137Met p.Thr137Met; Missense; Epilepsy and NDD; amino acid 137 p.Pro155Ser p.Pro155Ser; Missense; Epilepsy and NDD; amino acid 155 p.Pro155Ser p.Pro155Ser; Missense; Epilepsy and NDD; amino acid 155 p.Arg324Gly p.Arg324Gly; Missense; Epilepsy and NDD; amino acid 324 p.Tyr371Cys p.Tyr371Cys; Missense; Epilepsy and NDD; amino acid 371 c.2550+3 c.2550+3; Splice; Epilepsy and NDD; amino acid 850 p.Lys941Glu p.Lys941Glu; Missense; Epilepsy and NDD; amino acid 941 p.Asp997Asn p.Asp997Asn; Missense; Epilepsy and NDD; amino acid 997 p.Arg1176Cys p.Arg1176Cys; Missense; Epilepsy and NDD; amino acid 1176 p.Tyr1354LeufsTer25 p.Tyr1354LeufsTer25; Frameshift; NDD; amino acid 1354 p.Glu2087Asp p.Glu2087Asp; Missense; Epilepsy and NDD; amino acid 2087 p.Gly2088Trp p.Gly2088Trp; Missense; Epilepsy and NDD; amino acid 2088 p.Glu2170Lys p.Glu2170Lys; Missense; Epilepsy and NDD; amino acid 2170 p.Gly2264Ser p.Gly2264Ser; Missense; Epilepsy and NDD; amino acid 2264 p.Pro2278Ala p.Pro2278Ala; Missense; NDD; amino acid 2278 p.Gln2423Lys p.Gln2423Lys; Missense; Epilepsy and NDD; amino acid 2423 p.Asn2682Ser p.Asn2682Ser; Missense; Epilepsy and NDD; amino acid 2682 p.Pro2819Leu p.Pro2819Leu; Missense; Epilepsy and NDD; amino acid 2819 p.Ser2823Asn p.Ser2823Asn; Missense; Epilepsy and NDD; amino acid 2823 p.Val2829Leu p.Val2829Leu; Missense; Epilepsy and NDD; amino acid 2829 p.Ile3051ThrfsTer4 p.Ile3051ThrfsTer4; Frameshift; Epilepsy and NDD; amino acid 3051 HSA HSA: 799-871 Helicase ATP-binding Helicase ATP-binding: 1103-1268 Helicase C-terminal Helicase C-terminal: 1899-2056 Myb-like Myb-like: 2360-2429 1 452 903 1,354 1,806 2,257 2,708 3,159