Table 2 of
Siemiatkowska, Mol Vis 2014; 20:753-759. Table 2 of
Siemiatkowska, Mol Vis 2014; 20:753-759.
Table 2. Mutations in NMNAT1: pathogenicity predictions and population frequencies.
| Variant | PhyloP | SIFT | PolyPhen2 | Heterozygous exome variant server occurrence (European American) per 4,289 persons |
|---|---|---|---|---|
| c.53A>G (p.N18S) | 4.08 | tolerated | probably damaging | 0 |
| c.115+3A>G (p.?) | 0.53 | - | - | 46 |
| c.253T>C (p.W85R) | 4.81 | deleterious | probably damaging | 0 |
| c.472G>C (p.D158H) | 6.02 | deleterious | probably damaging | 0 |
| c.595G>T (p.E199*) | 2.79 | - | - | 0 |
| c.617A>G (p.H206R) | 4.89 | deleterious | probably damaging | 0 |
| c.619C>T (p.R207W) | 1.90 | deleterious | benign | 2 |
| c.731T>C (p.V244A) | 4.48 | deleterious | probably damaging | 0 |
| c.769G>A (p.E257K) | 3.84 | tolerated | benign | 11 |