Table 2. The effects of amino acid substitutions on PCDH15 protein function.
Analysis type | |||
---|---|---|---|
Variants | SIFT | PANTHER | PolyPhen |
c.400 C>G, R134G | Tolerated | Pdeleterious=0.96403 | Probably damaging PSIC score difference: 2.270 |
c.785 G>A, G262D | Tolerated | No score determined | Possibly damaging PSIC score difference: 1.947 |
c.1583 T>A, V528D | Not tolerated | Pdeleterious=0.99937 | Probably damaging PSIC score difference: 2.189 |
Abbreviation: PSIC, position-specific independent count.