ENU mutagenesis induced an A to T transversion at base pair 66,839,444 (v38) on chromosome 4, or base pair 11,634 in the GenBank genomic region NC_000070. The mutation corresponds to residue 754 in the mRNA sequence NM_021297 within exon 3 of 3 total exons. The mutation results in a histidine (H) to leucine (L) substitution at position 158 (H158L) in the protein. (J:224667)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count