From: THBD sequence variants potentially related to recurrent pregnancy loss
French RPL patients | |||||||||||||
DNA | Protein | Zygocity (n) | Rs | RPL Group | Patients | European controls (Ensembl) | MAF | Allelic Frequency (cases) | Allelic Frequency (controls) | P value | SIFT | PolyPhen | Evolutive conservation |
c.1418 C > T | p.Ala473Val | Homozygote (3) | rs1042579 | G1: 65,6% | 32/233 | 173/503 | 0.16 | C: 0,92 T: 0,08 | C: 0,80 T: 0,20 | 0,02 | Tolerated (0,42) | Bening (0) | Yes |
Heterozygote (29) | G2: 25% | ||||||||||||
G3: 9,4% | |||||||||||||
Colombian RPL patients | |||||||||||||
DNA | Protein | Zygocity (n) | Rs | RPL Group | Patients | Colombian Controls | MAF | Allelic Frequency (cases) | Allelic Frequency (controls) | P value | SIFT | PolyPhen | Evolutive conservation |
c. 457 T > G | p.Trp153Gly | Homozygote (3) | G1: 50% | 4/29 | 0/165 | T: 0,88 G: 0,12 | T: 1 G: 0 | 0,000009 | Deleterious (0) | Probably damaging (0.976) | Yes | ||
Heterozygote (1) | G3: 25% | ||||||||||||
G4: 25% | |||||||||||||
c.1418 C > T | p.Ala473Val | Heterozygote (4) | rs1042579 | G1: 50% | 4/29 | 51/165 | 0.16 | C: 0,93 T: 0,07 | C: 0,95 T: 0,05 | 0,73 | Tolerated (0,42) | Bening (0) | Yes |
G2: 25% | |||||||||||||
G4: 25% |