Table 2 In silico analysis of the novel variants of MSH4
From: Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia
Patient No. | Change in coding DNA (NM_001003811) | Protein/RNA change | Phenotype | GnomAD minor allele frequency (%) | ExAC | Polyphen2 | SIFT | Mutation taster | CADD |
|---|---|---|---|---|---|---|---|---|---|
P9359 | c.805_812del | p.V269Qfs*15 | MA | NA | NA | NA | NA | NA | NA |
P9517 | c.G1950A | p.W650X | MA | 1.2 × 10−5 | 8.3 × 10−6 | NA | NA | disease_causing_automatic | NA |
P9517 | c.2179delG | p.D727Mfs*11 | MA | NA | NA | NA | NA | NA | NA |
P9540 | c.G244A | p.G82S | MA | NA | NA | Benign | Deleterious | Deleterious | NA |
P9540 | c.670delT | p.L224Cfs*3 | MA | NA | NA | NA | NA | NA | NA |
P21504 | c.2220_2223del | p.K741Rfs*2 | MA | NA | NA | NA | NA | NA | NA |