Scn8a^m3Btlr

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)