Table 1. Sequence variants detected in exons 12–16, 22–32, and 38–45 of the SNRNP200 gene among 165 Chinese RP patients and 20 affected members from 11 adRP families.
| Number | Location | Nucleotide change | Residual change | Description | MAF in HapMap (CHB) |
Variation frequencya |
||
|---|---|---|---|---|---|---|---|---|
| Mixed RP Patients | adRP family Affected members | Controls | ||||||
| 1 | Exon 12 | c.1431C>T | p.G477G | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 2 | Exon 12 | c.1482G>A | p.E494E | Novel | / | 0/0/165 | 0/1/20 | 0/0/178 |
| 3 | Exon 12 | c.1504T>C | p.C502R | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 4 | Intron 12 | c.1515+67T>C | / | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 5 | Intron 15 | c.2036+74A>G | / | Novel | / | 0/0/165 | 0/0/20 | 0/2/178 |
| 6 | Intron 15 | c.2036+93G>T | / | Novel | / | 0/0/165 | 0/0/20 | 0/2/178 |
| 7 | Intron 15 | c.2036+107delT | / | Novel | / | 0/0/165 | 0/0/20 | 0/1/178 |
| 8 | Exon 16 | c.2092A>G | p.I698V | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 9 | Intron 25 | c.3365+145 G>A | / | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 10 | Intron 25 | c.3366-25 A>G | / | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 11 | Exon 27 | c.3550T>C | p.L1184L | rs3171927 | 0.155 | 5/50/165 | 0/3/20 | 1/51/178 |
| 12 | Intron 27 | c.3639+53_c.3639+93del | / | Novel | / | 0/0/165 | 0/0/20 | 0/1/178 |
| 13 | Exon 28 | c.3654T>C | p.S1218S | rs3214060 | 0.088 | 0/25/165 | 0/5/20 | 1/14/178 |
| 14 | Exon 28 | c.3690C>T | p.S1230S | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 15 | Intron 36 | c.5134-17C>T | / | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 16 | Intron 36 | c.5134-6C>G | / | rs3214062 | 0.005 | 0/2/165 | 0/0/20 | 0/2/179 |
| 17 | Exon 37 | c.5317C>T | p.L1773L | rs772175 | 0.474 | 33/81/165 | 2/10/20 | 25/78/178 |
| 18 | Exon 37 | c.5336G>A | p.R1779H | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 19 | Intron 37 | c.5324-41G>A | / | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
| 20 | Intron 37 | c.5324-31G>C | / | rs78519182 | 0.026 | 0/4/165 | 0/0/20 | 0/2/178 |
| 21 | Exon 38 | c.5457C>T | p.A1819A | rs148995951 | N/A | 0/0/165 | 0/0/20 | 0/1/178 |
| 22 | Intron 38 | c.5488+82C>T | / | rs72937668 | 0 | 0/2/165 | 0/0/20 | 0/0/178 |
| 23 | Intron 40 | c.5755-20A>G | / | rs3214063 | 0.216 | 10/57/165 | 2/5/20 | 5/61/178 |
| 24 | Exon 42 | c.5983G>A | p.A1995T | Novel | / | 0/1/165 | 0/0/20 | 0/1/178 |
| 25 | Exon 42 | c.6057A>G | p.L2019L | Novel | / | 0/0/165 | 0/0/20 | 0/1/178 |
| 26 | Exon 42 | c.6087C>A | p.I2029I | Novel | / | 0/1/165 | 0/0/20 | 0/0/178 |
Abbreviations: CHB, Chinese Han Beijing in HapMap populations; MAF, minor allele frequency; N/A, not available.
a
The variation frequency was presented in ‘Homozygote variant genotypes/Heterozygote variant genotypes/Total genotypic counts' fashion.