A neomcycin selection cassette was inserted into the fourth exon of the gene at codon 140. This mutation is predicted to cause a premature truncation of the protein before the enzyme active site. (J:54067)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count