Table 1 Heterozygous SLC26A3 variants in infertile and control men.

From: A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

Exon No.

Sequence variation

Infertile men (n = 283) n (%)

Control men (n = 211) n (%)

P value

SNP identity

PolyPhen-2 class (score)

3

c.241 A > G (p.Ile81Val)

1 (0.4)

0

 

rs116793431

Benign (0.044)

4

c.357 C > A (p.Phe119Leu)

13 (4.6)a

3 (1.4)

<0.05

rs73419912

Benign (0.003)

8

c.949_951delGTG (p.Val318del)

3 (1.1)

0

 

rs121913029

Finnish founder mutation for CLD

18

c.2062 G > C (p.Asp688His)

9 (3.2)a

2 (0.9)

<0.05

rs191547831

Probably damaging (0.994)

  1. aOne subject was a compound heterozygote for p.Phe119Leu/p.Asp688His. The c.921 T > G (p.C307W) variant, a functionally neutral change always preceding the founder mutation c.949_951delGTG (p.Val318del) for CLD4,5 was common in both the infertile (8%) and control (14%) group and was excluded from the analysis. P values were calculated with one-tailed Chi-square test without Yates’ correction. Only P values < 0.05 are shown.
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