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] |