KIF11 mutations identified in the families with FEVR
| Family no. | Exon no. | DNA change | Protein change |
|---|---|---|---|
| QT1314 | 2 | c.131_132dupAT | p.P45Ifs*92 |
| QT964 | 17 | c.2230C>T | p.Q744* |
| QT937 | 20 | c.2863C>T | p.Q955* |
| QT761 | 21 | c.2952_2955delGCAG | p.G985Ifs*6 |
All the mutations were novel and heterozygous, and the allele frequency of them in FEVR, other ocular diseases and Exome Aggregation Consortium were 1/68, 0/1560 and not present, respectively.
FEVR, familial exudative vitreoretinopathy.