Table 2 of
Duvvari, Mol Vis 2015; 21:285-292. Table 2 of
Duvvari, Mol Vis 2015; 21:285-292.
Table 2. Rare sequence variants identified in the CFH gene in 180 CD cases.
| Number of cases | Nucleotide change | Protein change | SNP Id | MAF (%) CD cases | EVS/dbSNP | Previous disease associations | Prediction algorithms | |
|---|---|---|---|---|---|---|---|---|
| SIFT | PolyPhen2 | |||||||
| 1 | c.7C>G | p.Leu3Val | rs139254423 | 0.27 | 0.02 | Novel | Tolerated (0.06) | Damaging (0.91) |
| 1 | c.428–2A>G | Splice-acceptor site | NA | 0.27 | 0 | Novel | NA | NA |
| 1 | c.481G>T | p.Ala161Ser | NA | 0.27 | 0 | Novel | Tolerated (0.17) | Benign (0.09) |
| 1 | c.518C>G | p.Ala173Gly | NA | 0.27 | 0 | Novel | Deleterious (0.03) | Benign (0.08) |
| 1 | c.524G>A | p.Arg175Gln | NA | 0.27 | 0 | Novel | Tolerated (0.17) | Benign (0.00) |
| 1 | c.578C>T | p.Ser193Leu | NA | 0.27 | 0 | Novel | Deleterious (0.0) | Damaging (0.99) |
| 1 | c.647T>C | p.Ile216Thr | rs183474263 | 0.27 | 0.001 | Novel | Tolerated (0.19) | Benign (0.003) |
| 1 | c.901_902del | p.Ala301Asnfs*25 | NA | 0.27 | 0 | Novel | NA | NA |
| 1 | c.1135T>C | p.Trp379Arg | NA | 0.27 | 0 | Novel | Deleterious (0.0) | Damaging (1.0) |
| 2 | c.1198C>A | p.Gln400Lys | rs201671665 | 0.55 | 0.01 | aHUS [29] | Tolerated (0.94) | Benign (0.01) |
| 2 | c.2850G>C | p.Gln950His | rs149474608 | 0.55 | 0.61 | aHUS [28] | Deleterious (0.0) | Damaging (0.80) |
| 1 | c.2867C>T | p.Thr956Met | rs145975787 | 0.27 | 0.16 | aHUS [30] | Tolerated (0.38) | Damaging (0.96) |
| 2 | c.3628C>T | p.Arg1210Cys | rs121913059 | 0.55 | 0.02 | aHUS/AMD [10,24] | Tolerated (0.05) | Benign (0.02) |