Table 1 of
Pan, Mol Vis 2014; 20:770-779. Table 1 of
Pan, Mol Vis 2014; 20:770-779.
Table 1. Mutations identified in RP causative genes in this cohort.
| Family ID | Chr | Gene | Mutation | Status | Bioinformatics Analysis | Novel / Recurrent | |||
|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Amino Acid | Exon | SIFT | PolyPhen-2 | |||||
| 01 | Chr19 | PRPF31 | c.1098delG | p.Leu366fs*1 | 11 | Het. | NA | NA | Novel |
| 02 | Chr2 | SNRNP200 | c.2042G>A | p.Arg681His | 16 | Het. | D | Probably D | Recurrent |
| 03 | Chr2 | SNRNP200 | c.3260C>T | p.Ser1087Leu | 25 | Het. | D | Probably D | Reported |
| 04 | Chr7 | IMPDH1 | c.931G>A | p.Asp311Asn | 10 | Het. | D | Possibly D | Recurrent |
| 05 | Chr8 | RP1 | c.2342C>G | p.Ser781* | 4 | Het. | NA | NA | Novel |
| 06 | Chr3 | RHO | c.1040C>T | p.Pro347Leu | 5 | Het. | D | Possibly D | Recurrent |
| 07 | ChrX | RP2 | c.409_411del | p.Ile137del | 2 | Hem. | NA | NA | Novel |
| 08 | ChrX | RP2 | c.193C>T | p.Gln65* | 2 | Hem. | NA | NA | Novel |