Gamme radiation-induced mutagenesis resulted in a transition in codon 241 (ATC to ACC) that caused an amino acid substitution of threonine for isoleucine at position 241 (I241T). Enzyme activity is reduced to 59% of wild-type in heterozygotes and 29% of wild-type in homozygotes. (J:45877)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count