Table 1.
Missense Mutations in Core NADPH Oxidase Genes
| Gene | Chrom | Position | Ref | Alt | AA change |
CADD | dbSNP MAF |
|---|---|---|---|---|---|---|---|
| CYBA | chr16 | 88643450 | C | T | R164H | 35 | - |
| CYBA | chr16 | 88646184 | C | T | A101T# | 24.9 | 0.000009 |
| CYBA | chr16 | 88646816 | C | T | V76M# | 24 | 0.000795 |
| CYBA | chr16 | 88646828 | A | G | Y72H | 11.7 | 0.689776 |
| CYBA | chr16 | 88647125 | T | G | K60T# | 3.32 | 0.003791 |
| CYBB | chrX | 37798966 | G | A | R229H | 26.7 | 0.000788 |
| CYBB | chrX | 37804069 | G | C | G364R | 23 | 0.003901 |
| NCF1 | chr7 | 74777318 | C | T | R42W | 31 | 0.000062 |
| NCF1 | chr7 | 74779274 | G | A | G83R# | 20.2 | 0.008833 |
| NCF1 | chr7 | 74779295 | C | T | R90C | 31 | - |
| NCF1 | chr7 | 74779319 | T | G | C98G | 22.9 | 0.000712 |
| NCF1 | chr7 | 74779322 | A | G | S99G# | - | - |
| NCF1 | chr7 | 74780830 | C | A | A149E | - | - |
| NCF1 | chr7 | 74783529 | G | A | W193* | 36 | 0.000646 |
| NCF2 | chr1 | 183560204 | G | A | P454S# | 0.75 | 0.004066 |
| NCF2 | chr1 | 183563229 | T | A | N419I# | 28.4 | 0.005324 |
| NCF2 | chr1 | 183563301 | C | T | R395Q | 23.4 | 0.001036 |
| NCF2 | chr1 | 183563302 | G | A | R395W | 34 | 0.015222 |
| NCF2 | chr1 | 183563455 | C | T | R386Q# | 13.4 | 0.002271 |
| NCF2 | chr1 | 183563531 | T | A | T361S# | 26.6 | 0.001892 |
| NCF2 | chr1 | 183566954 | A | G | V297A# | 22.9 | 0.004115 |
| NCF2 | chr1 | 183574503 | G | A | A162V | 35 | 0.000025 |
| NCF2 | chr1 | 183590217 | C | T | R38Q# | 34 | 0.001408 |
| NCF4 | chr22 | 36865055 | C | A | T85N# | 7.59 | 0.002867 |
| NCF4 | chr22 | 36870523 | C | T | R151C | 35 | 0.000056 |
| NCF4 | chr22 | 36875672 | C | T | T216M | 33 | 0.000647 |
Chrom: chromosome; AA: amino acid; CADD: Combined Annotation-Dependent Depletion score; MAF: minor allele frequency;
#
: variant included in Table 2 analysis