T to A transversion at base pair 34,503,413 (v38) on chromosome 11, or base pair 269,484 in the GenBank genomic region NC_000077 for the Dock2 gene. The mutation corresponds to residue 2,460 in the mRNA sequence NM_178666 within exon 24 of 52 total exons. The mutation results in a valine to glutamic acid substitution at position 793 (V793E) in the DOCK2 protein