Table 2 of
Musada, Mol Vis 2016; 22:491-502. Table 2 of
Musada, Mol Vis 2016; 22:491-502.
Table 2. Mutations observed in NDP gene in FEVR patients.
| Location in NDP gene | cDNA change# (Protein change) | Computational analysis | Reported/ Novel | Stage of FEVR | Proband No | Mutation frequency: Patients (n=110)/ Controls (n=115) | |
|---|---|---|---|---|---|---|---|
| SIFT (score) | PolyPhen2 (score) | ||||||
| Exon 2 | c.11_12delAT (p.His4ArgfsX21) | - | - | Reported [18] | OU:5 | 142 FR | 0.009/0.00 |
| c.69delC (p.Asp23GlufsX9) | - | - | Novel | OD:4B OS: 5 | 21 FR | 0.009/0.00 | |
| c.142_145del ATCA (p.Ile48ValfsX55) | - | - | Novel | OU:5 | 97 FR | 0.009/0.00 | |
| c.148C>G (p.His50Asp) | Damaging 0 | Probably damaging (0.991) | Novel | OU:4B | 33 FR | 0.027/0.00 | |
| OU:4A | 72 FR | ||||||
| OD:3B | 139 FR | ||||||
| OS:5 | |||||||
| c.170C>G (p.Ser57*) | - | - | Reported [59] | OU:5 | 108 FR | 0.009/0.00 | |
| Exon 3 | c.338G>A (p.Gly113Asp) | Damaging 0 | Probably damaging (1.000) | Novel | OU:2B | 85 FR | 0.009/0.00 |
| c.362G>A (p.Arg121Gln) | Damaging −0.01 | Probably damaging (0.998) | Reported [9,17,30] | OU:5 | 65 FR | 0.009/0.00 | |
| c.376T>C (p.Cys126Arg) | Damaging 0 | Probably damaging (0.997) | Novel | OU:5 | 94 FR | 0.009/0.00 | |