ENU-induced T to G transversion at base pair 60,300,851 (v38) on chromosome 10, or base pair 23,224 in the GenBank genomic region NC_000076 encoding Psap. The mutation corresponds to residue 1,714 in the mRNA sequence NM_001146120 within exon 13 of 14 total exons. The mutation results in a cysteine to tryptophan substitution at amino acid 533 (C533W) in the PSAP protein. (J:267559)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count