An A to G transition mutation was introduced at nucleotide residue 118 in exon 1 converting a lysine into an arginine (K14R). This mutation increased the half-life of the protein from about 22 minutes to about 30 minutes without knocking out repressor activity. In situ analysis indicates that the mutant protein is expressed. (J:91127)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count