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