ENU-induced T to A transversion at base pair 34,193,258 (v38) on chromosome 17, or base pair 5,703 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,760 in the mRNA sequence NM_013683 (variant 1) within exon 7 of 11 total exons or residue 1,676 in the mRNA sequence NM_001161730 (variant 2) within exon 8 of 12 total exons. The mutated nucleotide is indicated in red. The mutation results in a valine (V) to glutamic acid (E) substitution at position 479 (V479E) in isoform 1 and a V to E substitution at position 451 (V451E) in isoform 2 of the protein. (J:254888)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count