Table 10.
ID | Codon Number | Exon | Mutation Type | Strand 1 | WT Codon |
MUT Codon | Coding Change | Zygo- City |
Activity (Kato) 2 |
---|---|---|---|---|---|---|---|---|---|
X-1 | 91 | 4 | G:C→A:T | NTS | TGG | TGA | W91stop | Homo-/hemi | NA |
X-2 | 132 | 5 | A:T→T:A | NTS | AAG | ATG | R132M | Homo-/hemi | NF |
X-3 | 158 | 5 | del. G | TS | CGC | _GC | Frame-shift | Homo-/hemi | NA |
X-4 | 196 | 6 | G:C→C:G | TS | CGA | GGA | R196G | Homo-/hemi- | PF |
X-5 | 224 | 6 | G:C→C:G | NTS | GAG | GAC | E224D | Hetero- | F |
X-6 | 273 | 8 | G:C→T:A | TS | CGT | AGT | R273S | Hetero- | NF |
1 NTS = non-transcribed strand; TS = transcribed strand. 2 The overall transactivation activity of the mutant in a yeast functional assay published by Kato et al. [37]. NF = non-functional; PF = partially functional; F = functional; NA = not assessed.