Table 2.
In silico modeling of the effect of MASP-2 missense substitution on the protein function
# | DNA change | Protein change | SNP ID | Domains |
In silico modeling |
Interspecies alignment |
|||||
---|---|---|---|---|---|---|---|---|---|---|---|
Prediction | Scorea | Homo Sapiens | Rattus novergicus | Galus Galus | Xenopus tropicalis | Cyprinus Carpio | |||||
1 | c.296 G > A | p. R99Q | Rs61735600 | CUBI | Likely benign | 0.306 | R | R | E | K | D |
2 | c.359 A > G | p.D120G | rs72550870 | CUBI | Probably damaging | 2.871 | D | D | D | D | D |
3 | c.377 C > T | p.P126L | rs56392418 | CUBI | Likely benign | 1.188 | P | P | P | E | R |
4 | c.1111 G > T | p.D371Y | rs12711521 | CCP2 | Likely benign | 1.374 | D | D | D | D | E |
5 | c.1130 T > C | p.V377A | rs2273346 | CCP2 | Likely benign | 1.305 | V | V | I | Y | M |
Greater scores indicate higher probability to impair the protein function; factors taken into account for the calculation of the score are as follows: difference in thermo-physical properties of the wt and mutant protein; and evolutionary preservation of the residue in the corresponding position.