Table 2 Summary of KIF21A mutations reported in CFEOM probands to date.
Phenotype & Mutation | Amino acid | Previous Engle Lab Reports6–8 | Other Lab's Reports13–16 | Current Report | Total | % mutations |
|---|---|---|---|---|---|---|
CFEOM1 Total | 45 | 12 | 11 | 68/70 | 97% | |
1067 T>C | M356T | 2 | 0 | 1 | 3 | 4.0% |
2830G> C | E944Q | 0 | 0 | 1 | 1 | 1.5% |
2839A>G | M947V | 1 | 0 | 0 | 1 | 1.5% |
2840T>C | M947T | 1 | 0 | 0 | 1 | 1.5% |
2840T>G | M947R | 1 | 0 | 0 | 1 | 1.5% |
2860C>T | R954W | 32 | 12 | 5 | 49 | 70% |
2861G>A | R954Q | 6 | 0 | 2 | 8 | 11% |
2861G>T | R954L | 0 | 0 | 1 | 1 | 1.5% |
3022G>C | A1008P | 0 | 0 | 1 | 1 | 1.5% |
3029T>C | I1010T | 2 | 0 | 0 | 2 | 3.0% |
CFEOM3 Total | 2 | 0 | 0 | 2/70 | 3% | |
2841G>A | M947I | 1 | 0 | 0 | 1 | 1.5% |
2860C>T | R954W | 1 | 0 | 0 | 1 | 1.5% |