Gck^M1Btlr

The mutation is a T to A transversion at base pair 5,902,165 (v38) on chromosome 11, or base pair 47,917 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,655 in the mRNA sequence NM_010292 (variant 1) within exon 9 of 10 total exons and to residue 1,297 in the mRNA sequence NM_001287386 (variant 2) within exon 9 of 10 total exons. The mutation results in an asparagine (N) to lysine (K) substitution at position 391 (N391K). (J:221479)