Table 7.
Polymorphisms in the p47-phox gene NCF1.
| Polymorphic nucleotidea | Amino acid change | Reference |
|---|---|---|
| c.66G/C | p.Glu22His | Unpubl. |
| c.73G/A | p.Val25Met | Unpubl. |
| c.345C/T | p.Leu115Leu | [8] |
| c.468C/T | p.Ile156Ile | Unpubl. |
| c.558A/G | p.Val186Val | Unpubl. |
| c.621G/A | p.Ala206Ala | Unpubl. |
| c.825C/T | p.Phe275Phe | Unpubl. |
| c.849A/G | p.Ser283Ser | Unpubl. |
| c.936C/T | p.His312His | Unpubl. |
Identification of polymorphic sites in NCF1 is complicated by the p47-phox pseudogenes, which contain several differences from the functional gene; the referenced polymorphism was identified after amplification of NCF1 with primers that do not bind to the pseudogenes [8]. More synonymous polymorphisms can be expected to be introduced into NCF1 by recombination with the pseudogenes [20].