A to C transversion at base pair 34,262,445 (v38) on chromosome 11, or base pair 521,465 in the GenBank genomic region NC_000077 for Dock2. The mutation corresponds to residue 3,777 in the mRNA sequence NM_178666 within exon 37 of 52 total exons. The mutation results in an aspartic acid to alanine substitution at position 1,232 (D1232A) in the DOCK2 protein.