ENU induced an A-to-G mutation in exon 7 (c.971A>G) causing a tyrosine to cysteine substitution at position 324 (p.Y324C). This missense mutation falls in the kringle domain of the encoded peptide. The mutant protein is stably expressed. (J:98216, J:179805)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count