ENU mutagenesis induced a C to A point mutation in exon 9 that results in the amino acid substitution of serine for arginine at position 561 (R561S) in the catalytic core. (J:199859)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count