Table 2 of
Bowne, Mol Vis 2013; 19:2407-2417. Table 2 of
Bowne, Mol Vis 2013; 19:2407-2417.
Table 2. SNRNP200 mutations identified
| Family | exon with mutations | DNA change (NM_014014.4) | Protein Change | Previously Reported | SIFT Score | Polyphen Score |
|---|---|---|---|---|---|---|
| RFS048 | 13 | c.1625 C>T | p.Ala542Val | Novel | 0 | 1.00 |
| UTAD565 | 16 | c. 2041 C>T | p. Arg681Cys | Yes [11] | ||
| UTAD728 | 16 | c. 2041 C>T | p.Arg681Cys | Yes [11] | ||
| RFS910 | 16 | c. 2044 C>T | p.Pro682Ser | Novel | 0 | 0.99 |
| UTAD543 | 16 | c. 2042G>A | p. Arg681His | Yes [11] | ||
| UTAD701 | 25 | c.3260C>T | p.Ser1087Leu | Yes [27] | ||
| UTAD786 | 25 | c.3260C>T | p.Ser1087Leu | Yes [20] |