Figure 2

A milder effect of the heterozygous p.Asp688His variant than the homozygous p.Val318del mutation on seminal pH and sperm motility. (A) Seminal plasma pH and (B) sperm motility class A (%), as found in the semen samples from infertile men (n = 9) carrying the heterozygous variant c.2062 G > C (p.Asp688His) and from men with CLD (n = 8) caused by the homozygous loss-of-function mutation c.949_951delGTG (p.Val318del)8. Data are presented from minimum to maximum with the band inside the box indicating the mean value. Two azoospermic subjects, one in each subgroup, were excluded from the motility analysis. The median sperm motility class A in the heterozygotes for the p.Asp688His variant was 10% and the mean 16%, with 4 of those 8 subjects included in the analysis having the value of ≤2%. WHO normal values are: pH 7.2–7.8 and rapid progressive sperm motility class A > 25%63. P values were calculated with Student’s t-test. WT = wild-type.