TABLE 2.
Damaging variant | SIFT | PolyPhen | In vitro enzyme activity relative to WTa |
---|---|---|---|
N24K | Tolerated | Possibly damaging | Normal |
S44F | Tolerated | Probably damaging | Normal |
E58G | Affect function | Probably damaging | Normal |
P63L | Affect function | Benign | Normal |
T79I | Affect function | Probably damaging | Normal |
G80V | Affect function | Probably damaging | Greatly reduced |
T101I | Tolerated | Possibly damaging | Normal |
R112W | Tolerated | Probably damaging | Normal |
T121I | Affect function | Probably damaging | Reduced |
H134Y | Affect function | Probably damaging | Normal |
H135Y | Tolerated | Probably damaging | Normal |
G139E | Affect function | Probably damaging | Greatly reduced |
T176I | Tolerated | Possibly damaging | Normal |
P198L | Affect function | Probably damaging | Normal |
S229L | Tolerated | Possibly damaging | Reduced |
G231D | Tolerated | Probably damaging | Greatly reduced |
L241F | Affect function | Probably damaging | Normal |
P242L | Affect function | Probably damaging | Normal |
S275N/E295K | Affect function | Probably damaging | Undetectable |
T292I | Tolerated | Probably damaging | Greatly reduced |
E295K | Affect function | Probably damaging | Undetectableb |