Table 1 Rare variants of sGC α1 subunit found in MI patients:
From: Functional evaluation of GUCY1A3 mutations associated with myocardial infarction risk
Variant | Identified in | Predicted effect on protein function | ||
|---|---|---|---|---|
PolyPhen-2 | SIFT | SNAP | ||
p.Leu163Phefs*24 | MI family | frameshift | - | - |
p.Lys53Glu | 252 young MI cases | possibly damaging damaging | tolerated | non-neutral |
p.Thr64Ala | 252 young MI cases | benign | tolerated | neutral |
p.Thr229Met | 252 young MI cases | possibly damaging | tolerated | non-neutral |
p.Ser478Gly | 252 young MI cases | benign | tolerated | neutral |
p.Val587Ile | 252 young MI cases | benign | tolerated | neutral |
p.Gly573Arg | MI family | probably damaging | affect protein function | non-neutral |
p.Cys610Tyr | 252 young MI cases | probably damaging | tolerated | neutral |
p.Ile571Val | 252 young MI cases | possibly damaging | affect protein function | neutral |