ENU mutagenesis induced a G to A transition at base pair 30,870,105 (v38) on chromosome 7, or base pair 10,238 in the GenBank genomic region NC_000073. The mutation corresponds to residue 1,948 in the mRNA sequence NM_001043317 (variant 1) within exon 10 of 16 total exons and to residue 1,823 in the mRNA sequence NM_009845 (variant 2) within exon 8 of 14 total exons. The mutated nucleotide is indicated in red. The mutation results in a valine (V) to methionine (M) substitution at position 529 (V529M) in both isoforms. (J:224660)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count