Polymorphisms identified in the CYBA gene
| Nucleotide change . | Amino acid change . | . |
|---|---|---|
| −37 intron 1 3′ a → g | N/A | 1 normal homozygous g |
| 3 normal heterozygotes | ||
| 6 normal homozygous a | ||
| A179 → C | Lys60 → Thr | 1 normal heterozygote |
| 59 normal homozygous A | ||
| C214 → T | His72 → Tyr | Previously reported13 |
| G403 → A | Glu135 → Lys | Healthy mother of patient 1 homozygous |
| G480 → A | Silent | 2 normal homozygous A |
| 3 heterozygous | ||
| 42 normal homozygous G | ||
| Previously reported16 | ||
| C521 → T | Ala174 → Val | 3 normal homozygous T |
| 8 normal homozygous C | ||
| Previously reported13 | ||
| +24 of 3′ untranslated | N/A | 3 normal homozygous g |
| 1 heterozygote | ||
| 7 homozygous a | ||
| Previously reported16 |
| Nucleotide change . | Amino acid change . | . |
|---|---|---|
| −37 intron 1 3′ a → g | N/A | 1 normal homozygous g |
| 3 normal heterozygotes | ||
| 6 normal homozygous a | ||
| A179 → C | Lys60 → Thr | 1 normal heterozygote |
| 59 normal homozygous A | ||
| C214 → T | His72 → Tyr | Previously reported13 |
| G403 → A | Glu135 → Lys | Healthy mother of patient 1 homozygous |
| G480 → A | Silent | 2 normal homozygous A |
| 3 heterozygous | ||
| 42 normal homozygous G | ||
| Previously reported16 | ||
| C521 → T | Ala174 → Val | 3 normal homozygous T |
| 8 normal homozygous C | ||
| Previously reported13 | ||
| +24 of 3′ untranslated | N/A | 3 normal homozygous g |
| 1 heterozygote | ||
| 7 homozygous a | ||
| Previously reported16 |