ENU mutagenesis induced a T to C transition at base pair 11025868 bp (v38) on chromosome 15 in the GenBank genomic region NC_000081. The mutation corresponds to residue 1399 in the mRNA sequence (NM_053077.3) in exon 6 of 7 total exons. The mutation results in a substitution of serine (S) to a proline (P) at residue 435. (J:201724)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count