Table 5.
KRT8 variants in African-American control subjects**
| Variant | Nucleotide | # of variants (%) |
|---|---|---|
| F38F | TTC→TTT | 1 (0.4) |
| Y54H | TAT→CAT | 9 (3.8) |
| IVS1+9C>A | 2 (0.8) | |
| A333A | GCC→GCT | 31(13.1)* |
| A338A | GCC→GCT | 2 (0.8) |
| R341H | CGT→CAT | 4 (1.7)* |
| R362Q | CGG→CAG | 1 (0.4)* |
| R369W | CGG→TGG | 1 (0.4) |
| E376E | GAG→GAA | 5 (2.1) |
| A433T | GCC→ACC | 1 (0.4) |
| G434S | GGC→AGC | 24 (10.2) |
| V480I | GTC→ATC | 8 (3.4) |
| IVS8+31delC | 2 (0.8) | |
| IVS8+38del5nt | 1 (0.4) |
*
One of the highlighted variants is compound heterozygous.
**
The total number of tested controls is 236.
Bold lettering signifies novel variants which were not previously described.