Table 1. Prioritized Mutations and Pathogenicity Predicted by Five In Silico Tools.
protein change | phD-SNP | PMut | PROVEAN | SIFT | PolyPhen2 |
---|---|---|---|---|---|
R434P | disease | disease | deleterious | deleterious | probably damaging |
H533N | disease | disease | deleterious | deleterious | benign |
P613L | disease | disease | deleterious | deleterious | probably damaging |
T701M | disease | disease | deleterious | deleterious | probably damaging |
A704T | disease | disease | deleterious | deleterious | probably damaging |
S720C | neutral | disease | deleterious | deleterious | probably damaging |
R725W | disease | disease | deleterious | deleterious | probably damaging |
R725Q | disease | disease | deleterious | deleterious | possibly damaging |
R726Q | disease | disease | deleterious | deleterious | benign |
S732F | neutral | neutral | deleterious | deleterious | benign |