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. 2013 Jan 7;8(1):e51622. doi: 10.1371/journal.pone.0051622

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.