Nucleotide changes number | Nucleotide/protein change | Programs for prediction of nucleotide changes | ||
---|---|---|---|---|
PolyPhen-2 | PMUT pathogenic mutation prediction | Mutation tester | ||
1 | c.103G>C; p.Asp35His | Possibly damaging with a score of 0.710 | 0.47 (83%) Neutral | Disease causing |
2 | c.136G>T; p.Asp46Tyr | Probably damaging with a score of 1.000 | 0.94 (94%) Disease | Disease causing |
3 | c.136G>A; p.Asp46Asn | Probably damaging with a score of 1.000 | 0.89 (92%) Disease | Disease causing |
4 | c.283A>T; p.Arg95Trp | Probably damaging with a score of 1.000 | 0.79 (88%) Disease | Disease causing |
5 | c.307T>G; Tyr103Asp | Probably damaging with a score of 1.000 | 0.82 (90%) Disease | Disease causing |
6 | c.403A>G; p.Lys135Glu | Probably damaging with a score of 1.000 | 0.94 (94%) Disease | Disease causing |
7 | c.512G>A; p.Cys171Tyr | Probably damaging with a score of 1.000 | 0.53 (80%) Disease | Disease causing |
8 | c.590C>T; p.Pro197Leu | Probably damaging with a score of 0.996 | 0.69 (86%) Disease | Disease causing |
9 | c.1028G>A; p.Gly343Glu | Probably damaging with a score of 0.996 | 0.83 (90%) Disease | Disease causing |
10 | c.1034G>C; p.Trp345Ser | Probably damaging with a score of 1.000 | 0.89 (92%) Disease | Disease causing |
11 | c.1411G>C; p.Asp471His | Probably damaging with a score of 0.999 | 0.81 (89%) Disease | Disease causing |
12 | c.1418C>T; p.Pro473Leu | Probably damaging with a score of 0.976 | 0.72 (86%) Disease | Disease causing |