ENU mutagenesis induced a T to C transition at base pair 90,928,122 (v38) on chromosome 1, or base pair 13,101 in the GenBank genomic region NC_000067. The mutation corresponds to residue 428 in the mRNA sequence NM_053015 within exon 3 of 16 total exons. The mutation results in a cysteine (C) to arginine (R) substitution at position 84 (C84R) in the protein. (J:224669)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count