ENU-induced A to T transversion at base pair 57,301,214 (v38) on chromosome 17, or base pair 22,136 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,059 in the mRNA sequence NM_011691 within exon 10 of 27 total exons. The mutation results in a threonine to serine substitution at amino acid 321 (R321S) in the VAV1 protein. (J:272527)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count