Table 4. Non-synonymous variations in COLEC10 and COLEC11.
Variation | Region | PolyPhen-2 | Blosum62 | SIFT | Align-GVGD | PhD-SNP | Consurf |
---|---|---|---|---|---|---|---|
COLEC10 Glu78Asp (rs150828850) | Exon 3 | Benign | 2 | 1 | C0 | Neutral (7) | Variable(3) |
COLEC10 Arg125Trp (rs149331285) | Exon 5 | Probably damaging | -3 | 0 | C65 | Disease (3) | Conserved (9) |
COLEC11 His219Arg (rs7567833) | Exon 7 | Benign | 0 | 0.462 | 29 | Neutral (3) | Variable(3) |
PolyPhen-2 classifies qualitatively a mutation as benign, possibly damaging, or probably damaging. BLOSUM62 matrix values range from 4 (more likely) to -4 (less likely substitutions). SIFT values >0.05 indicate substitutions with little effect on protein function, while values <0.05 point out possible deleterious substitutions. Align-GVGD categorizes a mutation in seven graded classifiers from less likely (class C0) to most likely to interfere with protein function (class C65). PhD-SNP produces a binary prediction (neutral vs disease-related polymorphism), together with the reliability score of the prediction (0–9). Consurf position-specific conservation scores are divided in 9 grades, from the most variable (grade 1) to the most conserved positions (grade 9).