Mutation | Location in molecule | Origin | Identified in this study | Other studies that identified mutation |
---|---|---|---|---|
Trp57Stop | Exon 2, hinge region | Brazil | 16 | |
Canada | 17 | |||
Gly61Glu | Exon 2, hinge region | Morocco | 18 | |
Turkey | 8 | |||
Saudi Arabia | 19 | |||
Indian | 20 | |||
Arg368His | Exon 3, J helix | Saudi Arabia | 21 | |
Brazil | 16 | |||
Indian | 20 | |||
Glu387Lys | Exon 3, K helix | Slovakian gypsies | 11 | |
Canadian | 8, 21 | |||
Brazil | 16 | |||
USA | Yes | 8 | ||
Pro437Leu | Exon 3, meander | Brazil | 16 | |
Turkey | 8 | |||
Ala443Gly | Exon 3, meander | Germany | 22 | |
Brazil | 16 | |||
Arg469Trp | Exon 3, heme binding | Saudi Arabia | 5 | |
British | 8 | |||
Turkish | 8 | |||
268delSNF | Exon 2 | Saudi Arabia | 19 | |
USA | Yes | |||
4339/4340delG | Exon 2 | Brazil | 16 | |
Morocco | 18 | |||
8037_8046dupTCATGCCACC | Exon 3, frameshift | Germany | 22, 23 | |
Brazil | 16 | |||
USA | Yes | 8 | ||
British | 8 | |||
Turkey | 8 | |||
8182delG | Exon 3, frameshift | Brazil | Yes | 16 |
USA | 8 |