ENU-mutagenesis resulted in a transition of A to G at codon 225 that caused an amino acid substitution of an arginine for a glutamine at position 225 (Q225R). Enzyme activity is 100% of wild-type. (J:22177)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count