Table 4. Variants in FAT3 gene found in the study.
| Family | Variants | PublicDatabase_MAFa | ExAC_MAF (Non-Finnish CEU) | Medical Genome Project_MAFb | In silico prediction (SIFT; Polyphen; Mutation_taster; logiscReg)c |
|---|---|---|---|---|---|
| Fam2 | c.8680G > T:p.Val2894Leu | 0,000236742 | 3,00E-05 | NA | T;B;D;Y |
| Fam3 | c.2873T < C:p.Leu958Pro | 0,000681 | 0,000765 | 0,0019 | D;D;D;Y |
| Fam4 | c.13193G > A:p.Gly4398Asp | 0,002501191 | 0,001971 | 0,0037 | D;D;D;Y |
| Fam6 | c.3472A > G:p.Met1158Val | N | 1,50E-05 | NA | T;P;N;Y |
| Fam7 | c.6916G > A:p.Val2306Ile | N | N | NA | T;D;D;Y |
| c.6932C > G:p.Ser2311Cys | N | N | NA | D;P;D;Y |
aOnly maximum MAF across 1000 genome, dbSNP137 and ESP6500 was shown; N means variant not present in any public database.
bInclude 252 Spanish healthy individuals; NA means not available.
cIn silico prediction obtained from SIFT (T for tolerant, D for damaging), Polyphen-2 (B for benign, P for possibly damaging, D for probably damaging), Mutation taster (D for disease causing, N for polymorphism) and logistic regression model (Y for is deleterious) in KGGSeq.