ENU-induced A to G transition at base pair 91,423,829 (v38) on chromosome 1, or base pair 35,574 in the GenBank genomic region NC_000067. The mutation corresponds to residue 3,128 in the NM_011066 mRNA sequence, in exon 19 of 23 total exons. The mutation results in substitution of leucine 985 with proline (L985P) in the protein. (J:264638)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count