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