Table 6.
Bioinformatic analysis of the potential effects of TNNI3 mutations on the function of troponin I
Patient | Mutation (Nucleotide Change) | Mutation (Amino Acid Change) | SIFT | PROVEAN |
---|---|---|---|---|
1 | c.334A>G | p.E64G | Damaging −0 | Deleterious −6.352 |
2 | c.603A>T | p.M154L | Damaging −0.01 | Deleterious −2.717 |
3 | c.703A>G | p.E187G | Damaging −0.03 | Deleterious −4.042 |
4 | c.730A>G | p.D196G | Damaging −0 | Deleterious −4.411 |