ENU-induced G to A transition at base pair 57,296,552 (v38) on chromosome 17, or base pair 17,021 in the GenBank genomic region NC_000083. The mutation corresponds to residue 420 in the mRNA sequence NM_011691 within exon 3 of 27 total exons. The mutation results in a valine to isoleucine substitution at amino acid 108 (V108I) in the VAV1 protein. (J:272528)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count