ENU-induced G to A transition at base pair 101,689,444 (v38) on chromosome 13, or base pair 78,774 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,694 in the mRNA sequence NM_001077495 within exon 9 of 16 total exons and to residue 605 in the mRNA sequence NM_001024955 within exon 3 of 10 total exons. The mutation results in an arginine to glutamine substitution at residue 358 (R358Q) in the p85alpha protein as well as an R88Q substitution in p55alpha and p50alpha. (J:254892)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count