ENU-induced T to A transversion at base pair 101,702,776 (v38) on chromosome 13, or base pair 65,442 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,188 in the mRNA sequence NM_001077495 within exon 5 of 16 total exons. The mutation results in a substitution of tyrosine 189 to a premature stop codon (Y189*) in the p85alpha protein; p55alpha and p50alpha are not affected. (J:254890)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count