Table 2.
Exon/ Intron |
Nucleotide Change |
Predicted Effect on Protein |
dbSNP | Classi- Fication |
Number of Alleles |
---|---|---|---|---|---|
Exon 2 | c.95A>G | p.(His32Arg) | rs137852340 | II | 1 |
Exon 4 | c.202G>A | p.(Val68Met) | rs1050828 | III | 4 |
Intron 4 | c.267+5G>A | p.(?) | Novel | II | 1 |
Exon 5 | c.376A>G | p.(Asn126Asp) | rs1050829 | I–IV | 2 |
Exon 6 | c.563C>T | p.(Ser188Phe) | rs5030868 | II | 16 |
Exon 9 | c.871G>A | p.(Val291Met) | rs137852327 | III | 2 |
Exon 9 | c.969T>C | p.(Leu323Pro) | rs76723693 | III | 2 |
Exon 11 | c.1311T>C | p.(Tyr437Tyr) | rs2230037 | III (SNP) | 15 |
Exon 11 | c.1360C>T | p.(Arg454Cys) | rs398123546 | II | 1 |
Intron 11 | c.1365-13C>T | p.(?) | rs2071429 | III (SNP) | 6 |
dbSNP, Single Nucleotide Polymorphism Database; SNP, Single Nucleotide Polymorphism.