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The molecular lesion is an A to G transition at base pair 101,035,646 (v38) on chromosome 15, or base pair 165,824 in the GenBank genomic region NC_000081. This corresponds to nucleotide 4,883 in the mRNA sequence NM_001077499 within exon 26 of 27 total exons. The mutation results in a tyrosine (Y) to cysteine (C) substitution at amino acid 1577 (Y1577C) in the SCN8A protein. (J:215819)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
