ENU-induced A to G transition at base pair 57,301,870 (v38) on chromosome 17, or base pair 22,792 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,131 in the mRNA sequence NM_011691 within exon 11 of 27 total exons. The mutation results in a lysine to glutamic acid substitution at amino acid 345 (K345E) in the VAV1 protein. (J:272529)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count