Exo Mutation Mutation Type Region of Ethnic origin Sequence Controls Paper Ref medline # Submit Submitted
nt a.a. protein Tested Date by
4 1630C>T Q544X nonsense Cu 5/6 Fin CAG - TAG 0 Kemppainen et al 1997 11 97120592
4 1639delC Q547R-fs deletion Cu5 Pal ACTCCAG 120c Kalinsky et al 1998 16 98141682
4 1672-3delGA D558L-fs deletion Ita GAGGACTA 100c Loudianos et al 1998 18 98334344
4 1705-1715del11 T569-fs deletion Cu5/6 Bri GACAgtaagtact Curtis et al 1999 23 99433970
4 IVS4+2-+3:insT splice Turk ACAgttaa Curtis et al 1999 23/27 99433970
4 IVS4-5:T>G splice Jap ttgcag-tggcag Shimizu et al 1995 3 96095633
4 IVS4-1:G>C splice Ind, Pak agA-acA Thomas et al 1995 4 95235569
4 IVS4-1:G>A splice Gre agA-aaA 100c Loudianos et al. 2000 31 1121666
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5 1823-1825del3 F608Y-fs deletion Cu6 Ita TTTGAC 100c Loudianos et al 1998 18 98334344
6 1877G>C G626A missense Cu6/TM1 Sar, Ita, Tur, N. GGC - GCC 100 c. Figus et al 1995 2 96065019
6 1883-1884delAT H628R deletion Cu6/TM I Tur TTTCATGCT 100c Figus et al 1995 2 96065019
6 1924G>C D642H missense Tm1 Ita GAC-CAC 100c Loudianos et al 1998 18 98334344
6 1934T>G M645R missense Cu6/TM1 Jew ATG - AGG 100c Shah et al 1997 14 97456422
6 IVS6+(3-4)insG splice Bri CCAgtagggtag Curtis et al 1999 23 99433970
8 2123T>C L708P missense TM 2 N.Am. CTC - CCC 100c Shah et al 1997 14 97456422
8 2128G>C G710R missense TM 2 Ita GGT - CGT ASO Loudianos et al 1996 7 97085557
8 2128G>A G710S missense TM 2 Kurdish, Ita, ME GGT - AGT 100c Waldenstrom et al 1996 9 97034362
8 2129G>C G710A missense TM2 Ger GGT - GCT Ha-Hao et al 1998 15 99066766
8 2131G>A G711R missense TM2 Ita GGG-AGG 100c Loudianos et al 1999 25 99458727 Loudianos et al 1999
8 2131G>T G711W missense TM2 Pak GGG-TGG 104c Curtis et al 1999 23 99433970
8 2132G>A G711E missense TM 2 Ita GGG - GAG ASO Loudianos et al 1996 7 97085557
8 2138A>G Y713C missense TM 2 Ita TAC - TGC ASO Loudianos et al 1996 7 97085557
8 2158delA K720N deletion TM 2/3 Ita TACAAATCT Thomas et al 1995 4 95235569
8 2163-2164insT L722S-fs insertion TM 3 Jap TCTTCTG Nanji et al 1997 12 97342916
8 2222A>G Y741C missense TM3 Ger TAT-TGT Ha-Hao et al 1998 15 99066766
8 2223T>A Y741X nonsense TM3 Ita TAT-TAA Loudianos et al 1999 25
99458727 Loudianos et al 1999
8 2239A>T I747F missense TM3 Sar ATC-TTC 100c Loudianos et al 1998 18
98334344
8 2279C>T P760L missense TM3/4 Ger CCT-CTT 50 Genschel et al 2000 39 11180609
8 2280-2301del22 P760p-fs deletion TM3/4 Bri CCC~CCCA Curtis et al 1999 23 99433970
8 2293G>A D765N missense TM 4 Ita GAC - AAC 100 c. Figus et al 1995 2 96065019
8 2299delC P767P fs deletion TM4 ACGCCCCC Kim et al 1998 17 98213465
8 2298-2299insC P767P-fs insertion TM 4 Jap, Ita, Sco,Bri, ACGCCCCCCCA Thomas et al 1995 4 95235569
Alb, Ger, Aut, R
8 2305A>G M769V missense TM 4 N.Eur, Aut ATG - GTG 100c Shah et al 1997 14 97456422
8 2306T>G M769R missense CATG-CAGG 60c Curtis et al 1999 23 99433970
8 2307G>T M769I missense TM4 Jap ATG-ATT 100C Okada et al 2000 33 10790207
8 2326C>G L776V missense TM 4 Bri CTG - GTG Thomas et al 1995 4 95235569
8 2332C>G R778G missense TM 4 Tur CGG - GGG 100 c. Figus et al 1995 2 96065019
8 2332C>T R778W missense TM 4 N.Am. CGG - TGG 0 Shah et al 1997 14 97456422
8 2333G>A R778Q missense TM 4 Tai CGG - CAG 0 Chuang et al 1996 6 96375768
8 2333G>T R778L missense TM 4 Chi, Fre, Kor,Jap,CGG - CTG 0 Thomas et al 1995 4 95235569
8 2337G>A W779X nonsense TM 4 N. Eur, Ger, Aut TGG - TGA Waldenstrom et al 1996 9 97034362
9 2383C>T L795F missense TM 4/Td Ita CTC - TTC 0 Shah et al 1997 14 97456422
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10 2519C>T P840L missense Td Ita CCA-CTA 100c Loudianos et al 1998 18 98334344
10 2530delA K844K-fs deletion Td Ita, Tur, Alb GGGAAAGTC Figus et al 1995 2 96065019
10 2570T>C I857T missense Td Ita, Tur ATC - ACC 100 c. Figus et al 1995 2 96065019
IVS10+1:G>C splice Td Bri Thomas et al 1995 4 95235569
11 2605G>T G869X nonsense Td/TM 5 Ita GGA - TGA ASO Loudianos et al 1996 797085557
11 2605G>{c/a} G869R missense Td/TM 5 Anglo-Saxon GGA - ?GA 0 Shah et al 1997 1497456422
11 2621C>T A874V missense Td/TM 5 Jap. GCG - GTG 54c Yamaguchi et al 1998 1998112500
11 2630del3 del884Leu-fs deletion Jap. GTGCTCATT 100C Okada et al 2000 33 10790207
11 2659delG A887L-fs deletion Td/TM5 Jap. AAAGCTACC 54c Yamaguchi et al 1998 19 98112500
11 2659-2660insC A887A-fs insertion Jap. AGCCTA 100c Okada et al 2000 33 10790207
11 2672G>T G891V missense Td/TM 5 Ita GGC - GTC ASO Loudianos et al 1996 7 97085557
11 2693A>G Q898R missense Bri CAG-CGG Butler et al 2001 35 11243728
12 2752G>A D918N missense TM5 Ita GAC-AAC 100c Loudianos et al 1998 1898334344
12 2755C>G R919G missense Jap CGG - GGG 54c Yamaguchi et al 1998 1998112500
12 2755C>T R919W missense TM5 Ita, Tur CGG-TGG 100c Loudianos et al 1998 1898334344
12 2762G>A S921N missense TM5 Sar AGT-AAT 100c Loudianos et al 1998 1898334344
12 2764-2772 del 922-924 deletion Jap GGATATTTTGT 100C Okada et al 2000 30 10777157
12 2797A>C T933P missense TM5 Tur ACT-CCT 100c Loudianos et al 1998 18 98334344
12 2807T>A L936X nonsense TM 5 Gre, Sau TTG - TAG Thomas et al 1995 4 95235569
12 2827G>A G943S missense TM 5 Ita GGT - AGT Thomas et al 1995 4 95235569
12 2828G>A G943C missense TM5 Taiwan GGT-GAT 100c Tsai et al 1998 26 99045370
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14 3190G>A E1064K missense ATP loop Tur, Eur GAG - AAG 100 c. Figus et al 1995 2 96065019
14 3191A>C E1064A missense ATP loop Jew GAG - GCG 0 Shah et al 1997 14 97456422
14 3193G>C A1065P missense ATP loop Eur GCC - CCC Misrahi et al 1996 8
14 3203A>G E1068G missense SEHPL Ita GAA-GGA 100c Loudianos et al 1999 25 99458727 Loudianos et al 1999
14 3207C>A H1069Q missense ATP loop Ger, Yug, Rus,BriCAC - CAA Misrahi et al 1996 8
Gre, Bul, Ir, Ne, Swe, Sco
Ita, Cze, Ita, Tur, Alb, Aut
16 3424C>T Q1142X nonsense ATP loop Ita CAG-TAG 100c Loudianos et al 1999 25 99458727 Loudianos et al 1999
16 3426G>C Q1142H missense ATP loop Taiwan CAG-CAC 100c Tsai et al 1998 26 99045370
16 3436G>A V1146M missense ATP loop Sar GTG-ATG 100c Loudianos et al 1999 27 99433969
16 3443T>C I1148T missense ATP loop Chi ATT-ACT 100c Loudianos et al 1998 28 99018681 Chen R et al.
16 3447delA N1149T-fs deletion ATP loop GGAAAC Curtis et al 1999 23 99433970
16 3452G>A R1151H missense ATP loop Turk CGT-CAT 100c Loudianos et al 1999 25 99458727 Loudianos et al 1999
16 3457T>C W1153R missense ATP loop TGG - CGG 0 Waldenstrom et al 1996 9 97034362
16 3459G>T W1153C missense ATP loop Taiwan TGG-TGT Tsai et al 1998 26 99045370
16 3472-82del 11 deletion ATPloop Pol AACGGTTTAACCATTT Shah et al 1997 14 97456422
16 3505A>G M1169V missense ATP loop Port,Bri ATG - GTG 54c Yamaguchi et al 1998 19 97034362
16 3506T>C M1169T missense ATP loop Turk ATG-ACG 100c Loudianos et al 1999 25 99458727 Loudianos et al 1999
16 3517-18 GA>AG E1173R missense ATP loop Ita GAG-AGG 100c Loudianos et al 1999 25 99458727 Loudianos et al 1999
16 3526G>C G1176R missense Ger GGA-AGA Ha-Hao et al 1998 15 99066766
16 3543delA T1178T-fs deletion ATP loop Jap AGACAGCC 50c Shimizu et al 1999 38 10453196
16 3547G>A A1183T missense ATP loop Ita GCT-ACT 100c Loudianos et al 1998 18 98334344
16 3548C>G A1183G missense TM 8 GCT - GGT Shah et al 1997 14 97456422
16 3550-3551insT I1184I-fs insertion ATP loop Eur, N.Am. CTATTTG Tanzi et al 1993 1 94129610
16 3556G>A G1186S missense TM 8 Jap GGT - AGT 54c Yamaguchi et al 1998 19 97034362
16 3556G>T G1186C missense ATP loop Jew GGT - TGT Shah et al 1997 14 97456422
16 IVS16+1g>a splice ATP loop Bri Ggt-Gat Thomas et al 1995 4 95235569
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20 4022G>C G1341D missense TM8 Alb GGT-GAT 100c Loudianos et al 1998 18 98334344
20 4051C>T Q1351X nonsense TM Ger CAG-TAG 50 Genschel et al 2000 39 11180609
20 4057T>{c/a} W1353R missense TM 7 Ir TGG -?GG Shah et al 1997 14 97456422
20 4058G>A W1353X nonsense TGG-TAG Curtis et al 1999 23 99433970
20 4063G>A G1355S missense TM 7 GGC - AGC Waldenstrom et al 1996 9 97034362
20 4072G>T A1358S missense TM8 Ita GCC-TCC 100c Loudianos et al 1998 18 98334344
20 4089-4090delTG V1364V fs deletion TM 7 Bri TCTGTGTCT Thomas et al 1995 4 95235569
20 4095-4096delTG S1365S-fs deletion TM 7 Jap TCTGTGTCTGTG 54c Yamaguchi et al 1998 19 98112500
20 4118T>C L1373P missense TM8 Jap CTC-CCC 100C Okada et al 2000 33 10790207
Note: **Nucleotides are numbered as 5' upstream of the translation start site;
Alb = Albania, Aut = Austria, Ban = Bangladesh, Bri = Britain, Bul = Bulgaria, Chi = Chinese, Cze = Czech Republic,
Eur = Europe, Fre = France, Ger = Germany, Gre = Greece,Ne = Netherlands, Ind = India, Ira = Iran,
Ir = Ireland, Ita = Italy, Jap = Japan, Kor = Korea, Lat = Latvia, Pak = Pakistan, Pol = Poland, Rus = Russia,
Sar = Sardinia, Sau = Saudi Arabia, Sco = Scotland, Swe = Sweden, Tai = Taiwan, Tur = Turkey, Ukr = Ukraine,
Yug = Yugoslavia.
References:
1. Tanzi RE, Petrukhin K, Chernov I et al (1993) The Wilson disease gene is a copper-transporting ATPase with
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25. Loudianos G, Dessi V., Lovicu M et al (1999) Mutation analysis in patients of Mediterranean descent
with Wilson disease: identification of 19 novel mutations. J Med Genet 36:833-36 99458727
26. Tsai C-H, Tsai F-J er al (1998) Mutation Analysis of Wilson Disease in Taiwan and Despcription of
Six New Mutations. Hum Mut 12:370-376 99045370
27.Loudianos G, Dessi V, Lovicu M et al (1999) Molecular Charcterization of Wilson Disease
in the Sardinian Population - Evidence of a Founder Effect. Hum Mut 14:294-303 99433969
28. Loudianos G, Dessi V, Lovicu M (1998) Haplotpye and mutation analysis in Greek patients with Wilson
disease. Eur J Hum Gen 6:487-491 99018681
29. Lee C-C, Wu J-Y et al (2000) Molecular analysis of Wilson disease in Taiwan: identification of
one novel mutation and evidence of haplotype-mutation association. J Hum Genet 45:275-279
11043508
30. Okada T, Morise T et al (2000) A new variant deletion of a copper-transporting P-type ATPase
gene found in patients with Wilson's disease presenting with fulimant hepatic failure.
J Gastroenterol 35:278-283 10777157
31. Loudianos G, Lovicu M et al (2000) Delination of the Spectrum of Wilson Disease Mutations
in the Greek Population and the Identification of Six Novel Mutations. Genetics Mutations 4:399-402
11216666
32. Mujumdar R, Jumah MA et al (2000) A novel deletion mutation within the carboxyl terminus of the
copper-transporting ATPase gene causes Wilson Disease. J of Neurl Sci 179:143-143 11054498
33. Okada T, Shiono Y et al (2000) Mutational Analysis of ATP7B and Genotype-Phenotype
Correlation in Japanese With Wilson's Disease. Hum Mut 15:454-462 10790207
34. Kusuda Y, Hamaguchi K et al (2000) Novel Mutations of the ATP7B gene in Japanese patients
with Wilson Disease. J Hum Genet 45:86-91 10721669
35. Butler P, McIntyre N et al (2001) Molecular Diagnosis of Wilson Disease. Mol Gen Met 72:223-230 11243728
36.Genschel J, Sommer G, Haas R et al (2000) Three novel mutation, c314C>A, c778insC, and c1285+2T>A,
in exon 2 of the WILson disease gene. Hum Mutat. Sept 16(3):278 10980554
37. Haas R, Gutierrez-Rivero B et al. (1999) Mutation Analysis in Patients with Wilson disease:
Identification of 4 Novel Mutations. Hum Mutat 14(1):88 10447265
38. Shimizu N, Nakazono H et al (1999) Molecular analysis and diagnosis in Japanese patients with
Wilson's Disease Ped Int 41: 409-413 10453196
39. Genschel J, Czlonkowska A et al (2001) Three novel mutations (P760L, L1305P, Q1351Stop)
causing Wilson disease. Feb :17 (2) :156 11180609
40.Olsson C, Waldenstrom et al (2000) Determination of the frequencies of ten allelic variants of the Wilson disease
gene (ATP7B), in pooled DNA samples. Euro Jour Hum Genet 8: 933-938 11175281
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