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CURRENT DOCUMENTSCN1A variant landscapeNM_001165963.4 · 2,009 aa
13 variants3 phenotypes4 domainsQC passed
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SCN1A protein variant map Protein variant map for SCN1A with 13 unique variants and 4 functional domains. SCN1A protein variant map Protein length: 2,009 amino acids · 13 unique variants · Transcript: NM_001165963.4 VARIANT TYPE · SHAPE Missense (8) Nonsense (3) Frameshift (1) Splice (1) PHENOTYPE · COLOR Dravet syndrome GEFS+ Hemiplegic migraine Compound heterozygous pair Pair-01: p.Ala239Val and p.Arg1648His p.Arg101GlnfsTer5 p.Arg101GlnfsTer5; Frameshift; Dravet syndrome; amino acid 101 p.Arg222Ter p.Arg222Ter; Nonsense; Dravet syndrome; amino acid 222 p.Ala239Val p.Ala239Val; Missense; GEFS+; amino acid 239 p.Trp384Ser p.Trp384Ser; Missense; Dravet syndrome; amino acid 384 p.Arg613Ter p.Arg613Ter; Nonsense; Dravet syndrome; amino acid 613 p.Gly829Ser p.Gly829Ser; Missense; Hemiplegic migraine; amino acid 829 p.Thr875Met p.Thr875Met; Missense; Dravet syndrome; amino acid 875 c.4545+1 c.4545+1; Splice; Dravet syndrome; amino acid 1515 p.Arg1648His p.Arg1648His; Missense; GEFS+; amino acid 1648 p.Phe1661Leu p.Phe1661Leu; Missense; Hemiplegic migraine; amino acid 1661 p.Gly1749Glu p.Gly1749Glu; Missense; Dravet syndrome; amino acid 1749 p.Phe1831Ser p.Phe1831Ser; Missense; GEFS+; amino acid 1831 p.Arg1892Ter p.Arg1892Ter; Nonsense; Dravet syndrome; amino acid 1892 Domain I Domain I: 180-430 Domain II Domain II: 690-975 Domain III Domain III: 1160-1450 Domain IV Domain IV: 1510-1800 1 288 575 862 1,148 1,435 1,722 2,009