The peewee mutation is a 4 base pair deletion that alters codon 313 from leucine to a premature stop (L313X) in exon 3 within the ligand binding domain. The truncated protein is predicted to be nonfunctional. (J:188839)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count