Table 2 Mutation information of USH2A detected in this study
Family | Mutation | Source | PROVEAN | SIFT | Mutation Taster | PolyPhen-2 | ||
|---|---|---|---|---|---|---|---|---|
Nucleotide change | Protein change | Domain | ||||||
19114 | c.14453C > T | p.Pro4818Leu | NO | Aller, E. et al | Deleterious | Damaging | Might be affected | Probably damaging |
c.7184_7194del | p.Leu2395Hisfs*19 | FN3 | novel | NA | NA | Might be affected | Probably damaging | |
19162 | c.5031_5047del | p.His1677Glnfs*15 | LamG | novel | NA | NA | Disease casing | Probably damaging |
c.13478 G > A | p.Arg4493His | FN3 | Novel | Neutral | Tolerated | Polymorphism | Benign | |
19123 | c.4645 C > T | p.Arg1549* | LamG | Baux, D. et al. | NA | NA | Disease casing | NA |
c. 8559-2 A > G | p.Asp3515Gly | FN3 | Nakanishi, H. et al. | NA | NA | Disease casing | NA | |
19178 | c.100_101insT | p.Arg34Leufs*41 | NO | Dai, H. et al. | NA | NA | Disease casing | Probably damaging |
c.15178 T > C | p.Ser5060Pro | Transmembrane region | Novel | Neutral | Tolerated | Polymorphism | Probably damaging | |
19124 | c.2802 T > G | p.Cys934Trp | EGF_Lam | Novel | Deleterious | Damaging | Disease casing | Probably damaging |
c.11156 G > A | p.Arg3719His | FN3 | Novel | Deleterious | Damaging | Disease casing | Probably damaging | |
