ENU mutagenesis induced a a C to A transversion at base pair 10,741,508 (v38) on chromosome 10, or base pair 340,870 in the GenBank genomic region NC_000076. The mutation corresponds to residue 1,931 in the NM_016976 mRNA sequence in exon 6 of 9 total exons and residue 1,931 in the NM_001114333 mRNA sequence in exon 6 of 10 total exons. The mutation results in substitution of tyrosine 510 (Y510) for a premature stop codon (Y510*) in all isoforms. (J:224657)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count