TABLE 1.
TRIM71 variants identified in infertile men within the MERGE cohort.
| Variant (cDNA) | Variant (protein) | Predicted effecta | MAFb | Subject ID | Age and origin | Semen analysis/histologyc | Testis vol.d | LHe | FSHf | Tg |
| c.224_240dup | p.(Gly81CysfsTer24) | NA | 0 | M364 | 26; Germany | Azoo/SCO | 24/21 | 9 | 17.9 | 7.6 |
| c.248C>T | p.(Ala83Val) | 10.2; B/T/N | 0 | M2118 | 33; Germany | Crypto/NA | 16/17 | 4.1 | 7.6 | 14.1 |
| c.368T>C | p.(Val123Ala) | 18.5; D/D/D | 0 | M2110 | 43; Kazakstan | Crypto/NA | 19/17 | 5.5 | 6.2 | 14.9 |
| c.553G>T | p.(Ala185Ser) | 0.01; B/T/N | 0.0047 | M1325 | 33; Germany | Azoo/Hypo | 7/8 | 4.6 | 6.8 | 15.6 |
| c.553G>T | p.(Ala185Ser) | 0.01; B/T/N | 0.0047 | M1562 | 36; Germany | Azoo/SCO | 9/6 | 7.3 | 24.7 | 13.8 |
| c.785G>C | p.(Gly262Ala) | 0.2; B/T/D | 0 | M2173 | 28, Turkey | Azoo/SCO | 13/18 | 2.9 | 8.3 | 17.7 |
| c.803T>A | p.(Leu268His) | 15.6; D/T/D | 0 | M1793 | 33; Turkey | Azoo/MeiA | 15/15 | 6.3 | 8.4 | 15.3 |
| c.1070C>T | p.(Ala357Val) | 23.2; B/T/D | 0.0001 | M1686 | 29; Romania | Crypto/NA | 17/16 | 9.5 | 7.1 | 39.7 |
| c.1486C>T | p.(Arg496Cys) | 28.8; D/D/D | 0.0001 | M1083 | 36; Germany | Azoo/NA | 12/8 | 9.6 | 18.1 | 17.5 |
| c.1549C>T | p.(Arg517Cys) | 23.4; D/T/D | 0.0016 | M468 | 34; Pakistan | Azoo/MeiA | 19/16 | 6.8 | 6.4 | 19.8 |
| c.1613C>G | p.(Ala538Gly) | 14.4; B/T/D | 0 | M2069 | 29; Lebanon | Azoo/NA | 9/6 | 3.5 | 8.4 | 6.1 |
| c.1789G>A | p.(Gly597Ser) | 30; D/D/D | 0.0022 | M244 | 31; Germany | Azoo/MeiA | 26/26 | 2.8 | 5.2 | 15.2 |
| c.1789G>A | p.(Gly597Ser) | 30; D/D/D | 0.0022 | M754 | 32; Turkey | Azoo/SCO | 6/7 | 11 | 30.7 | 15.9 |
| c.1789G>A | p.(Gly597Ser) | 30; D/D/D | 0.0022 | M2141 | 27; Turkey | Azoo/Hypo | 17/14 | 5.8 | 13.5 | 16.6 |
aPredicted effect of each TRIM71 variant estimated by four different pathogenicity prediction algorithms (CADD/PolyPhen2/SIFT/MutationTaster, shown in the same order). For CADD, variants with values above 20 are more likely to be deleterious to protein function. For the rest, D, damaging/deleterious; T, tolerated; B, benign; N, neutral; NA, not available. bMAF (minor allele frequency) values derive from gnomAD and are considered rare if MAF < 0.001 when occurring in heterozygosis. cSemen analysis was performed for all patients (Azoo, azoospermia; Crypto, cryptozoospermia), and if biopsies were available, patients’ phenotypes were also histologically assessed (SCO, Sertoli cell-only phenotype; MeiA, meiotic arrest; Hypo, hypospermatogenesis). dTesticular volumes (testis vol., right/left, ref. > 15 mL each; bold, values outside the normal range). eLuteinizing hormone (LH, ref. 2-10 IU/L; bold, values outside the normal range). fFollicle-stimulating hormone (FSH, ref. 1-7 IU/L; bold, values outside the normal range). gTestosterone (T, ref. > 12 nmol/L; bold, values outside the normal range).