TABLE 1.
In silico missense variant assessment on potential disease-association of the predicted amino acid substitions resulting from translational read-through of USH1C c.91C>T; p.R31* nonsense mutation (i.e., wild-type codon -“-CGA-” to mutant premature termination codon “-TGA-”).
| Codon position altered from PTC | Possible mispairing | Amino acid substitution | dbSNP | Polyphen-2 [0–1] | phyloP [−19.0; 10.9] | Grantham dist. [0–215] | Align GVGD [GV:353.86 - GD:0.00] | SIFT (score: 0. Median: 3.71) | MutationTaster (probability 1) | gnomAD MAF % |
|---|---|---|---|---|---|---|---|---|---|---|
| UGA | CGA | p.Arg31Arg (=wild-type) | — | — | — | — | — | — | — | |
| AGA | ||||||||||
| GGA | p.Arg31Gly | rs121908370 | Probably damaging; 1 | phyloP: 9.17 [−19.0, 11.0] | 125 [0–215] | Class C0 (GV: 241.31—GD: 24.28) | DELETERIOUS (score: 0, median: 4.32) | Disease-causing; 1 | 0.00398 | |
| 10 het in 251248 alleles | ||||||||||
| UGA | UUA | p.Arg31Leu | — | Probably damaging; 1 | — | 102 [0–215] | Class C0 (GV: 241.31—GD: 90.63) | DELETERIOUS (score: 0, median: 4.32) | Disease-causing; 1 | — |
| UCA | p.Arg31Ser | — | Probably damaging; 1 | — | 110 [0–215] | Class C0 (GV: 241.31—GD: 21.04) | DELETERIOUS (score: 0, median: 4.32) | Disease-causing; 1 | — | |
| UGA | UGU | p.Arg31Cys | Probably damaging; 1 | 180 [0–215] | Class C0 (GV: 241.31—GD: 80.92) | DELETERIOUS (score: 0, median: 4.32) | Disease-causing; 1 | — | ||
| UGC | ||||||||||
| UGG | p.Arg31Trp | Probably damaging; 1 | — | 101 [0–215] | Class C0 (GV: 241.31—GD: 94.79) | DELETERIOUS (score: 0, median: 4.32) | Disease-causing; 1 | — |