Table 1.
List of the CYB5R3 mutations found in all of the subjects evaluated.
| Exon | HGVS nomenclature for nt change*,# |
HGVS nomenclature for amino acid change |
Mutation | Ethnicity | Described in a Previous Publication |
|---|---|---|---|---|---|
| 2 | c.216 G>A | p.Pro44Pro | Silent | Greek | Not applicable |
| 3 | g.17958 C>G | p.Ser54Arg | Missense | Mexican | Not applicable |
| 6 | c.554 T>G | p.Phe157Cys | Missense | Greek | Not applicable |
| 6 | g.21783 G>A | p.Ala179Thr | Missense | Indian | Dekker et al (2001) Kugler et al (2001) Maran et al (2005) Percy et al (2005) |
| 9 | c.841 G>A | p.Val253Met | Missense | Greek | Dekker et al (2001) Kugler et al (2001) Grabowska et al (2003) Percy et al (2006) |
| 9 (3’ UTR) | c.1053 A>G | - | SBS | Greek | Not applicable |
| 9 (3’ UTR) | c.1277 C>A | - | SBS | Greek | Not applicable |