Table 1. Summary of the Q899STOP, P908S, D937N and T943I mutations of AKD identified in the deep sequencing screen.
Mutation | Codon Change |
Amino Acid Change |
Total Freq % (Reads) |
Patient |
---|---|---|---|---|
1 | CAG>TAG | Q899STOP | 2.76 (4,167) | 6 |
2 | CCA>TCA | P908S | 9.94 (4,167) | 6 |
3 | GAC>AAC | D937N | 4.30 (3,833) | 32 |
4 | ACT>ATT | T943I | 1.59 (3,833) 1.76 (5,282) |
32 6 |