Table 5. Predicted effects due to the mutations in MYBPC1 using SIFT and PolyPhen-2.
Variants | Domain | SIFT | PolyPhen-2 | Memo |
---|---|---|---|---|
p.P319L | C2 | Tolerated(0.29) | Possibly damaging(0.593) | reported in the present study |
p.E359K | C2 | Tolerated(0.11) | Probably damaging(0.999) | reported in the present study |
p.W236R | M motif | Tolerated(0.43) | Probably damaging(0.999) | [12] |
p.Y856H | C8 | Tolerated(0.31) | Probably damaging(0.997) | [12] |
SIFT: scores % less than 0.05 indicate substitutions are predicted as intolerant.
PolyPhen-2: scores are evaluated as 0.000 (most probably benign) to 0.999 (most probably damaging).