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. 2011 Jul 31;72(10):912–915. doi: 10.1016/j.humimm.2011.06.016

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
a

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.