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Table 1 THBD open reading frame sequencing in RPL patients and control individuals

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%