Table 3 Analysis of QRICH2 mutations in asthenozoospermia patients
| Â | Human subject | |||||
|---|---|---|---|---|---|---|
| Â | P76 | P19 | P72 | P34 | P364 | P241 |
cDNA mutationa | c.3380T>A | c.1706T>A | c.3313C>A | c.3335G>A | c.4039A>G | c.4481G>A |
Protein alteration | p.L1127a | p.V569E | p.Q1105K | p.G1112E | p.M1347V | p.R1494H |
Mutation type | Nonsense | Missense | Missense | Missense | Missense | Missense |
Allele frequency in ExAC Browser | 0 | 0 | 0 | 0.000008237 | 0.00001648 | 0.0009482 |
Function prediction | ||||||
 SIFT | NA | Deleterious | Deleterious | Deleterious | Deleterious | Deleterious |
 PolyPhen-2 | NA | Probably damaging | Probably damaging | Probably damaging | Probably damaging | Probably damaging |
 M-CAP | NA | Possibly pathogenic | Possibly pathogenic | Possibly pathogenic | Possibly pathogenic | Possibly pathogenic |
