A point mutation, T to A transversion, was engineered to create a cysteine to serine change at position 76 that resulted in a hypomorphic allele. Biochemical assays were used to determine protein activity level. (J:122458)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count