Table 2.
Structural and functional prediction of missense QVs in MASP1, COLEC11, and COLEC10 in the asymptomatic cohort
| Gene | Amino Acid Change | No of Heterozygotes | Protein Domain (Function) | DUET ΔΔG (Kcal/mol) | SNAP2 Score |
|---|---|---|---|---|---|
| MASP1 | p.(Ser109Cys)a,b | 1 | CUB1 (interaction) | –0.337 | 82 |
| MASP1 | p.(Arg677Cys)a,b | 1 | Serine protease (catalytic) | –1.106 | 37 |
| MASP1 | p.(Tyr244Cys)a,b | 1 | CUB2 (interaction) | –0.058 | 88 |
| MASP1 | p.(Val666Leu)a | 2 | Serine protease (catalytic) | –0.233 | 63 |
| COLEC11 | p.(Ser174Leu) | 2 | Lectin (carbohydrate recognition) | 0.228 | 30 |
| COLEC11 | p.(Glu108Gly) | 4 | Collagen-like (interaction) | NA | 29 |
| COLEC10 | p.(Asp81Gly) | 5 | Collagen-like (interaction) | NA | 14 |
QV, qualifying variant; NA, not applicable.
a
Variants affecting MASP1 isoform.
b
Variants affecting MASP3 isoform.