Table 1 of Zhang, Mol Vis 2010; 16:1353-1360.

Table 1. Sequence variants detected in the RP1 gene among 55 Chinese RP patients.

        Variation frequency +

Location		 Nucleotide
change		 Residual
change
Description		 Patients

(n=55)		 Controls

(n=190)
Intron 3 c.787+34T>C / Novel 20090 0/190
Exon 4 c.1222A>C p.I408L Novel 20090 0/190
Exon 4 c.2116G>C * p.G706R [26] 20121 1/190
Exon 4 c.2615G>A p.R872H rs444772 43/55 130/190
Exon 4 c.2953A>T p.N985Y rs2293869 20149 27/190
Exon 4 c.3024G>A p.Q1008Q [26] 20090 1/190
Exon 4 c.4108A>G p.K1370E Novel 20090 0/190
Exon 4 c.4955G>T p.R1652L Novel 20090 0/190
Exon 4 c.5008G>A p.A1670T rs446227 44/55 106/190
Exon 4 c.5071T>C p.S1691P rs414352 44/55 106/190
Exon 4 c.5175A>G p.Q1725Q rs441800 44/55 106/190
Exon 4 c.6045A>G p.L2015L Novel 20090 0/190
Exon 4 c.6098G>A p.C2033Y rs61739567 20149 27/190
Exon 4 (3′UTR) c.6542C>T / [26] 20149 2/190

*One patient was homozygous for the p.G706R variant while the other was heterozygous for the variant; +The variation frequency was presented in a format of “variant genotypes/total genotypic counts”; / indicates “not applicable.”

Zhang, Mol Vis 2010; 16:1353-1360. http://www.molvis.org/molvis/v16/a149

©2010 Molecular Vision http://www.molvis.org/molvis/

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