Table 2 of Kim, Mol Vis 2011; 17:844-853.


Table 2. Mutation screening of the RHO gene.

Location Nucleotide Protein Patient Control Note Reference
Pathogenic
Exon 1 c.50C>T p.Thr17Met 1/604 0/228 Reported [30]
Exon 3 c.533A>G p.Tyr178Cys 1/604 0/228 Reported [9]
Exon 4 c.888G>T p.Lys296Asn 1/604 0/228 Reported [31]
Exon 4 c.893C>A p.Ala298Asp 1/604 0/228 Novel
Exon 5 c.1040C>T p.Pro347Leu 2/604 0/228 Reported [5]
Benign
Intron 3 c.696+4C>T   28/604 11/228 Reported rs56340615
Exon 4 c.891C>T p.Ser297Ser 5/604 2/228 Reported [31]
Intron 4 c.937–23G>A   172/604 58/228 Reported rs2071092