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. Author manuscript; available in PMC: 2017 Oct 19.
Published in final edited form as: Handb Clin Neurol. 2017;142:19–34. doi: 10.1016/B978-0-444-63625-6.00003-3

Table 3.1.

Regional distribution of common Wilson disease mutations by geographic location

Prevalent mutations
Region AF (%) Protein Nucleotide RS Exon Type Domain
Europe
Austria (Ferenci, 2006) 34.1 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
6.4 p.Gly710Ser c.2128G>A 8 Missense TM2
3.6 p.Met769fs c.2298_2299insC rs137853287 8 Premature stop TM4
Benelux (Ferenci, 2006) 53 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Bulgaria (Todorov et al., 2005) 58.8 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Canary Islands (García Villarreal et al., 2000) 64 p.Leu708Pro c.2123 T>C 8 Missense TM2
Czech Republic (Vrabelova et al., 2005) 57 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Denmark (Møller et al., 2011) 18 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
16 p.Trp779* c.2336G>A rs137853283 8 Nonsense TM4
France (Bost et al., 2012) 15 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Germany (Ferenci, 2006) 47.9 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Germany (East, former) (Caca et al., 2000) 63 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Greece (Panagiotakaki et al., 2004; 35 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Dedoussis et al., 2005; Gomes and Dedoussis, 2016)
12 p.Arg969Gln c.2906G>A rs774028495 13 Missense TM6
Hungary (Firneisz et al., 2002; Folhoffer et al., 2007) 42.9 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Iceland (Thomas et al., 1995a; Hofer et al., 2012) 100 p.Tyr670* c.2007_2013del 7 Nonsense TM1
Italy (Loudianos et al., 1999) 17.5 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
9 p.Val845fs c.2530delA rs755709270 10 Premature stop Td
6 p.Met769fs c.2298_2299insC rs137853287 8 Premature stop TM4
Netherlands (Stapelbroek et al., 2004) 33 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Poland (Gromadzka et al., 2005) 72 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
7.3 p.Ala1135fs c.3400delC rs137853281 15 Premature stop ATP loop
3.7 p.Gln1351* c.4051C>T 20 Nonsense
Romania (Iacob et al., 2012) 38.1 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Russia (Ivanova-Smolenskaya et al., 1997) 49 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Sardinia (Figus et al., 1995) 60.5 c.-441_-427del 5prime Unknown Promoter
8.5 p.Met822fs c.2463delC 10 Deletion TM4/Td
7.9 p.Val1146Met c.3436G>A 16 Missense ATP loop
Serbia 38.4 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
(Tomić et al., 2013)
11.6 p.Met769fs c.2304dupC 8 Missense TM4
9.3 p.Ala1003Thr c.3007G>A rs1801247 13 Missense TM6/Ph
Spain (Margarit et al., 2005) 27 p.Met645Arg c.1934 T>G rs121907998 6 Missense Cu6/TM1
Sweden (Shah et al., 1997) 38 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Turkey (Ferenci, 2006; Simsek Papur et al., 2013) 17.4 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
5.3 p.Gly710Ser c.2128G>A rs772595172 8 Missense TM2
4.53 p.Gln457* c.1369C>T 3 Nonsense Cu4/Cu5
UK (Coffey et al., 2013) 19 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
8 p.Met769Val c.2305A>G 8 Missense TM4
Yugoslavia (former) (Loudianos et al., 1999) 48.9 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
11.4 p.Met769fs c.2298_2299insC rs137853287 8 Premature stop TM4
Asia
China (Gu et al., 2003; Z.-Y. Wu et al., 2003; Wang et al., 2011; Wei et al., 2014) 31 p.Arg778Leu c.2332C>T rs28942074 8 Missense TM4
10 p.Pro992Leu c.2975C>T rs201038679 13 Missense TM6/Ph
9.6 p.Ile1148Thr c.3443 T>C rs60431989 16 Missense ATP loop
3.3 p.Thr935Met c.2804C>T 12 Missense TM5
19 p.Arg778Leu c.2332C>T rs28942074 8 Missense TM4
North India (S. Kumar et al., 2006; Gupta et al., 2007)
12 p.Ile1102Thr c.3305 T>C rs560952220 15 Missense ATP loop
9 p.Pro992His c.2975C>A 13 Missense TM6/Ph
South India (Santhosh et al., 2006; S. S. Kumar et al., 2012) 11 p.Ala1003Val c.3008C>T 13 Missense TM6/Ph
11 p.Cys271* c.813C>A rs572147914 2 Nonsense Cu3
9 p.Pro768Leu c.2303C>T 8 Missense TM4
9 p.Arg969Gln c.2906G>A rs121907996 13 Missense TM6
East India (Gupta et al., 2005) 16 p.Cys271* c.813C>A rs572147914 2 Nonsense Cu3
11 p.Gly1061Glu c.3182G>A 14 Missense ATP loop
8.5 c.1708-1G>C rs137853280 5 Splice Cu6
West India (Aggarwal and Bhatt, 2013; Aggarwal et al., 2013) 20 p.Cys271* c.813C>A rs572147914 2 Nonsense Cu3
11 p.Glu122fs c.365_366delins 2 Ins/Del Cu1
TTCGAAGC
6 p.Thr977Met c.2930C>T rs72552255 13 Missense TM6
6 p.Leu795Phe c.2383C>T 9 Missense TM4/Td
Japan (Okada et al., 2000; Tatsumi et al., 2010) 17.95 p.Asn958fs c.2871delC 13 Premature stop TM5/TM6
16.7 p.Arg778Leu c.2332C>T rs28942074 8 Missense TM4
10.5 c.1708-5 T>G 5 Splice Cu6
Korea (E. K. Kim et al., 1998; Yoo, 2002; G.-H. Kim et al., 2008; Song et al., 2012) 37.9 p.Arg778Leu c.2332C>T rs28942074 8 Missense TM4
12.1 p.Asn1270Ser c.3809A>G rs121907990 18 Missense ATP hinge
9.4 p.Ala874Val c.2621C>T rs376355660 11 Missense TM5
8 p.Leu1083Phe c.3247C>T 15 Missense ATP loop
Lebanon (Usta et al., 2014) 44.7 p. Ala1003Thr c.2299insC rs137853287 8 Missense TM4
Saudi Arabia (Al Jumah et al., 2004; Majumdar et al., 2004) 32 p.Gln1399Arg c.4196A>G 21 Missense After TM8
16 p.Ser774Arg c.2230 T>C rs535217574 21 Missense TM3
Taiwan (Lee et al., 2000; Wan et al., 2006) 29.6 p.Arg778Leu c.2332C>T rs28942074 8 Missense TM4
8.9 p.Pro992Leu c.2975C>T rs201038679 13 Missense TM6
4.8 p.Gly943Asp c.2828G>A 12 Missense TM5
Thailand (Panichareon et al., 2011) 10.52 p.Arg778Leu c.2332C>T rs28942074 8 Missense TM4
7.89 p.Leu1371Pro c.4112 T>C 20 Missense TM8
Iran (Zali et al., 2011) 19 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
Africa
Egypt (Abdelghaffar et al., 2008; Abdel Ghaffar et al., 2011) 42.2 IVS18+6 T>C c.3903+6C>T rs2282057 18 Splice
40.6 p.Ala11140Val c.3419C>T 16 Missense ATP loop
26.5 p.Lys832Arg c.2495A>G rs1061472 10 Missense TM4/Td
Americas
USA (Kuppala et al., 2009) 40.3 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
1.9 p.Asn1270Ser c.3809A>G rs121907990 18 Missense ATP hinge
1.9 p.Gly1266Arg c.3796G>A rs121907992 18 Missense ATP hinge
Brazil (Deguti et al., 2004; Machado et al., 2008; Bem et al., 2013) 37.1 p.His1069Gln c.3207C>A rs76151636 14 Missense ATP loop
31.25 p.Ala1135fs c.3400delC rs137853281 15 Premature stop ATP loop
11.4 p.Ala1135GlnfsX13 c.3402delC rs137853281 15 Premature stop ATP loop
p.Leu708Pro c.2123 T>C 8 Missense TM2
Costa Rica (Shah et al., 1997) 61 p.Asn1270Ser c.3809A>G rs121907990 18 Missense ATP hinge
Venezuela (Paradisi et al., 2015) 26.9 p.Ala1135GlnfsX13 c.3402delC rs137853281 15 Premature stop ATP loop
9.6 p.Gly691Arg c.2071G>A 7 Missense TM2

AF, RS,