Mutationa | Outcome | Corresponding residue in E. colib | CRIMc | Mutant mRNA as a ratio of wild type mRNAd |
---|---|---|---|---|
Exon 3 76C→T | R26C | R11 | + | |
Exon 10 499C→T | R167W | R149 | + | |
Exon 10 517C→T | R173W | R155 | −/+ | 0.97 |
Exon 10 518G→A | R173Q | R155 | + | 0.66 |
Exon 12 673C→G | R225G | R211 | − | 0.82 |
Exon 12 673C→T | R225X | R211 | − | 0.22 |
Exon 15 1073delA | Frame shifte | − | 0.72 |