ENU-induced G to A transition at base pair 94,403,445 (v38) on chromosome 15, or base pair 61,983 in the GenBank genomic region NC_000081. The mutation corresponds to residue 458 in the mRNA sequence NM_177431 (isoform 1) within exon 2 of 39 total exons and residue 458 in the mRNA sequence NM_00164785 (isoform 2) within exon 2 of 28 total exons. The mutated nucleotide is indicated in red. The mutation results in an arginine (R) to histidine (H) substitution at position 66 (R66H) in both protein variants.