ENU-induced A to G transition at base pair 52,139,264 (v38) on chromosome 1, or base pair 19,827 in the GenBank genomic region NC_000067. The mutation corresponds to residue 1,155 in the mRNA sequence NM_001205313 within exon 10 of 25 total exons.The mutation results in a lysine to glutamic acid substitution at amino acid 286 (K286E) in the STAT1 protein. (J:264800)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count