ENU-induced C to T transition at base pair 3,990,910 (v38) on chromosome 16, or base pair 12,920 in the GenBank genomic region NC_000082. The mutation corresponds to residue 1,473 in the NM_177472 mRNA sequence in exon 7 of 15 total exons. The mutation results in substitution of glutamine (Q) 389 for a premature stop codon (Q389*) in the protein. (J:236683)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count