ENU-induced T to A transversion at base pair 45,402,981 (v38) on chromosome 8, or base pair 8,969 in the GenBank genomic region NC_000074. The mutation corresponds to residue 522 in the mRNA sequence NM_126166 within exon 4 of 7 total exons. The mutation results in an isoleucine (I) to lysine (K) substitution at position 54 (I54K) in the protein. (J:254925)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count