ENU mutagenesis induced a T to A transversion in exon 7 (780 bp from the start codon, NM_024022.2) that results in the amino acid substitution of a stop codon for tyrosine at posistion 260 (Y260X). The predicted truncated protein lacks most of the protease domain. (J:172676)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count