Table I.
CGD patient subtype and specific mutation
| CGD Patient | Gene affected | DNA mutation | Protein mutation | Mutation type |
|---|---|---|---|---|
| 1 | gp91 | c.676 C>T | p.Arg226X | Nonsense |
| 2 | gp91 | c.483+1 G>C | Del exon 5 | Splice |
| 3 | gp91 | c.80-83 del TCTG | p.Val27GlyfsX33 | Frameshift |
| 4 | gp91 | c.742 dup A | p.Ile248fsX37 | Frameshift |
| 5 | gp91 | c.868 C>T | p.Arg290X | Nonsense |
| 6 | gp91 | c.676 C>T | p.Arg226X | Nonsense |
| 7 | gp91 | c.676 C>T | p.Arg226X | Nonsense |
| 8 | gp91 | c.675-1 G>A | Del exons 6 & 7 | Splice |
| 9 | p47 | Not determined | Not determined | Not determined |
| 10 | gp91 | c.909 C>A | p.His303Gln | Missense |
| 11 | gp91 | c.388 C>T | p.Arg130X | Nonsense |
| 12 | p47 | c.75_76 del GT | p.Tyr26fsX26 | Frameshift |
| 13 | gp91 | c.868 C>T | p.Arg290X | Nonsense |
| 14 | p47 | c.75_76 del GT | p.Tyr26HisfsX26 | Frameshift |
| 15 | p47 | Not determined | Not determined | Not determined |
| 16 | p47 | c.75_76 del GT | p.Tyr26HisfsX26 | Frameshift |