Table 4 of Kim, Mol Vis 2009; 15:833-843.


Table 4. Mutations and polymorphisms identified in the Korean XLRS patients

Nucleotide
change

Location
Effect of
change

Case

Previous report
c.78+1G>T Intron 2 Splicing mutation Case 4 Novel mutation
c.78+5G>A Intron 2 Splicing mutation Case 8 Novel mutation
c.184+35T>C Intron 3 Polymorphism Case 12, 14 Leiden open variation database for RS1
c.184+129T>G Intron 3 Polymorphism Case 12, 14 Novel variant
c.214G>A Exon 4 p.E72K Case 9, 16 [11]
c.214G>C Exon 4 p.E72Q Case 15 [36]
c.227T>G Exon 4 p.V76G Case 6 Novel missense mutation
c.305G>A Exon 4 p.R102Q Case 7 [11]
c.426T>G Exon 5 p.C142W Case 3 [37]
c.544C>T Exon 6 p.R182C Case 12, 14 [11]
c.589C>T Exon 6 p.R197C Case 2 [11]
c.590G>A Exon 6 p.R197H Case 1 [11]
c.625C>T Exon 6 p.R209C Case 11 [11]
c.637C>T Exon 6 p.R213W Case 17 [11]
c.638G>A Exon 6 p.R213Q Case 10 [15]
c.647T>C Exon 6 p.L216P Case 5 [11]