Rab27a^m2Btlr

The mutation is a T to C transition at base pair 73,084,981 (v38) on chromosome 9, or base pair 40,172 in the GenBank genomic region NC_000075. The mutation corresponds to residue 663 in the mRNA sequence NM_001301230 (isoform 1) within exon 5 of 7 total exons, residue 514 in the mRNA sequence NM_023635 (isoform 2) within exon 4 of 6 total exons, and residue 556 in the mRNA sequence NM_001301232 (isoform 3) within exon 4 of 6 total exons. The mutation results in an leucine (L) to proline (P) substitution at position 97 (L97P) in all of the isoforms. (J:221491)