Table 3 of
Riazuddin, Mol Vis 2006;
12:1283-1291.Table 3 of
Riazuddin, Mol Vis 2006;
12:1283-1291.
Table 3. Sequence changes in the PDE6A gene in three Pakistani families
Sequence changes in the PDE6A gene in three Pakistani families.
Exon Base change Predicted protein change Protein change ---- --------------- ---------------------------------------- -------------- Probable disease-causing mutations in PDE6A gene 4 c.889C>T Premature termination Arg256>Ter 11 IVS10-2A>G Deletion of 22 amino acids p.K470_L491del 17 c.2218-2219insT Frame shift & premature termination p.Y700fsX714 Sequences changes in the PDE6A gene that are not believed to be pathogenic 1 c.297A>G Silent polymorphism Glu59>Glu 1 c.424C>A Silent polymorphism Arg102>Arg 1 c.451A>C Silent polymorphism Arg111>Arg 1 c.585C>T Silent polymorphism Asn155>Asn 2 c.618G>A Silent polymorphism Val166>Val 5 IVS5 +33A>G Noncoding polymorphism ----- 11 IVS10-34A>G Noncoding polymorphism ----- 18 IVS17-16T>G Noncoding polymorphism ----- 22 IVS21-37T>C Noncoding polymorphism ----- |