Table 2.
Novel PRPF31 mutations in a French adRP cohort.
| Index (families) | Exon | Nucleotide Exchange | Protein Effect | Information about Penetrance |
|---|---|---|---|---|
| CIC00398 (F273) | 4 | c.269_273del | p.Tyr90CysfsX21 | incomplete |
| CIC00607 (F405) | Int6 | c.527+2T>C | splice defect | incomplete |
| CIC00034 (F28) | 7 | c.666dup | p.Ile223TyrX56 | segregates (1 affected show mutation, 3 unaffected no mutation) |
| CIC03777 (F1706) | 8 | c.709_734dup | p.Cys247X | incomplete |
| CIC01171 (F700) | 9 | c. 873_897dup | p.Thr300GlyfsX32 | incomplete |
| CIC00140 (F108) | 10 | c.997delG | p.Glu333SerfsX5 | incomplete |
Mutations are indicated according to NM_015629.3 by using the recommendations of human genome variation society: http://www.hgvs.org/rec.html.