Sequence analyses revealed that this allele has a C-to-T nucleotide change in exon 9. This missense mutation leads to an amino acid exchange from arginine to cysteine at residue 479 (p.R479C). A mutant protein is expressed from this allele, but it does not have peroxidase activity. (J:112930)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count