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. 2020 Mar 30;8(6):e1214. doi: 10.1002/mgg3.1214

Figure 1.

Figure 1

Most common pathogenic alleles of the CBS gene per country: p.Ile278Thr, p.Thr191Met, p.Gly307Ser, Trp323Ter, and p.Arg336Cys. The most prevalent variant in the world (p.Ile278Thr) is the most common in The Netherlands (allelic frequency: 55%), Poland (36%), Germany (33%), England (29%), Italy (29%), Denmark (20%), Czech Republic and Slovakia (20%), USA (19%), Israel (18%), France (17%), and Brazil (16%). The variant p.Thr191Met is the most common in Colombia (73%), Spain (44%), Portugal (23%), and Venezuela (20%). In Ireland (66%) and Australia (22%) the most common variant is p.Gly307Ser. The variant Trp323Term is the most common in Saudi Arabia (77%), and in Qatar (highlighted by the red circle) the most common variant is p.Arg336Cys (97%). Other prevalent mutations are c.700_702delGAC in Korea (20%), c.1224‐2A>C in Russia (27%), p.Arg121His and p.Lys441Ter in Japan (16% each one), p.Arg125Gln in China (15%), in Argentina p.Ala226Thr (22%) and in Norway p.Arg266Lys (34%)