An arginine-to-tryptophan (CGG->TGG) change at amino acid 1092 in exon 21 was generated through ENU mutagenesis. This mutation affects one of the C-terminal zinc fingers. The R1092W mutation does not effect protein expression or stability. (J:214793)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count