The mutation is an A to G transition at base pair 78,564,968 (v38) on chromosome 15, or base pair 7,816 in the GenBank genomic region NC_000081. The mutation corresponds to residue 481 in the mRNA sequence NM_009008 within exon 5 of 7 total exons. The mutation results in a threonine (T) to alanine (A) substitution at position 115 (T115A). (J:221478)