Table 4. RD3 Coding SNPs.
Position | Polymorphism type | Change | Predicted effect on protein | Rs numnber | Reference |
Exon 2 | Non-conservative | c.16T>C | p.W6R | rs35649846 | dbSNP |
Exon 2 | Non-conservative | c.69G>C | p.E23D | rs34422496 | dbSNP |
Exon 2 | Non-conservative | c.83C>T | p.T28M | rs61740157 | dbSNP |
Exon 2 | Conservative | c.84G>A | p.T28T | rs61740158 | dbSNP |
Exon 2 | Non-conservative | c.101C>T | p.T34M | - | This study |
Exon 2 | Non-conservative | c.103G>A | p.G35R | rs34049451 | dbSNP |
Exon 2 | Non-conservative | c.139C>T | p.R47C | rs34049451 | dbSNP |
Exon 2 | Non-conservative | c.202C>T | p.R68W | - | Friedman et al. 2006 |
Exon 2 | Conservative | c.235T>C | p.L79L | rs35937732 | dbSNP |
Exon 3 | Conservative | c.498C>T | p.I166I | - | This study |
Exon 3 | Non-conservative | c.500G>A | p.R167K | rs74782684 | dbSNP |
Exon 3 | Non-conservative | c.511G>A | p.E171K | - | This study |
Exon 3 | Non-conservative | c.584A>T | p.D195V | - | Friedman et al. 2006; This study |
Novel non-conservative changes were regarded as polymorphisms when they did not segregate with the disease in patients and/or were found in control individuals. References: 1:http://www.ncbi.nlm.nih.gov/SNP/; 2: Friedman et al. 2006. All Sequence change data are based on the RefSeq cDNA sequence NM_183059.2.