Atp2b2^m1Btlr

The mutation is a T to C transition at base pair 113,760,650 (v38) on chromosome 6, or base pair 281,964 in the GenBank genomic region NC_000072. The mutation corresponds to residue 3,402 in the mRNA sequence NM_009723 (variant 1) within exon 18 of 22 total exons and residue 3,213 in the mRNA sequence NM_001036684 (variant 2) within exon 16 of 20 total exons, and residue 3,520 in the cDNA transcript ENSMUST00000101044 (variant 3) within exon 20 of 24 total exons. The mutation results in a leucine (L) to proline (P) substitution at position 925 (L925P) in isoform 1 and 2 and L970P in isoform 3 of the encoded isoforms. (J:221473)