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. Author manuscript; available in PMC: 2015 Sep 13.
Published in final edited form as: Blood Cells Mol Dis. 2010 Feb 18;44(4):291–299. doi: 10.1016/j.bcmd.2010.01.009

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.
a

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].