Table 5.
Polymorphisms in the p22-phox gene CYBA.
Polymorphic nucleotide | Amino acid change | Reference |
---|---|---|
c.59–37A/G | NA | [30] |
c.36A/G | p.Glu12Glu | [60] |
c.179A/C | p.Lys60Thr | [30] |
c.214C/T | p.His72Tyr | [28,60] |
c.288–138ins50 | NA | [13] |
c.381T/C | p.Arg127Arg | [60] |
c.403G/A | p.Glu135Lys | [30] |
c.480G/A | p.Pro160Pro | [30,37,60] |
c.512A/G | p.Glu171Gly | [60] |
c.521C/T | p.Ala174Val | [28,30,31,60] |
c.579G/T | p.Glu193Asp | [60] |
c.612A/G (+24 of 3′ UT region) | NA | [37,60] |