Table 1.
PIK3CG SNPs selected to the study and allele frequencies (AFs) found by genetic studies with different populations.
| Selected PIK3CG SNPs (chromosome 7) |
Allele | EPIGEN-Brazil Project MAF |
l000Genomes Project (Phase 3) |
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total (n = 5,823) | Brazilian cohorts |
Global (n = 1,354) | Continental groups |
||||||||||||
| rs dbSNP ID | Function | Amino acids | mRNA mutation | Codons | SIFT | PolyPhen | Bambui (n = 926) | Pelotas (n = 3,651) | Salvador (n = 1,246) | AMRa (n = 347) | AFRa (n = 504) | EURa (n = 503) | |||
| rsl7847825 | Missense | S/Y | S1635Y | TCC/TAC | Deleterious (0.01) | Possibly damaging (0.873) | A | 0.086 | 0.080 | 0.097 | 0.061 | 0.055 | 0.048 | 0.005 | 0.110 |
| rs1 129293 | Synonymous | S | S2335S | AGC/AGT | T | 0.240 | 0.240 | 0.258 | 0.190 | 0.252 | 0.428 | 0.067 | 0.314 | ||
| rs2230460 | Synonymous | D | D2850D | GAC/GAT | T | 0.088 | 0.082 | 0.098 | 0.065 | 0.059 | 0.050 | 0.011 | 0.112 | ||
MAF, minor allele frequency; AFR, African populations (ESN, GWD, LWK, MSL, and YRI); AMR, native American admixed populations (CLM, MXL, PEL, and PUR); EUR, European populations (CEU, FIN, GBR, IBS, and TSI); PolyPhen, polymorphism phenotyping; SIFT, sorting intolerant from tolerant; SNP, single-nucleotide polymorphism.
aPublic data from 1000 Genomes Project (32).
Nucleotide changes are highlighted in bold.