Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Wilson's disease - Mutation Database

 

ATP7B (NM_000053)
Location Nucleotide change Amino acid change Protein domain rs ID Reference
promoter c.-447C>T - - - Sánchez-Monteagudo (2020) Clin Genet 97(5):758-763
E1  Exon 1 deletion Exon 1 deletion Before Cu1 - Badenas-Orquín (2011) Gastroenterol Hepatol. 34(6):428—433
I1 c.51+4A>T splicing Before Cu1 rs369488210 Lovicu (2009) Genet Test Mol Biomarkers 2:185-191
E2 c.254G>T p.G85V Cu1 rs786204643 Loudianos (1998) Hum Mutat. 12:89-94
E2 c.331C>T p.Q111* Cu1 rs774221179 Loudianos (1998) Hum Mutat. 12:89-94
E5 c.1708-1G>A splicing Cu6 rs137853280 Margarit (2005) Clin Genet. 68:61-8
E5 c.1739delA p.H580Pfs*2 Cu6 rs1555293357 Lepori (2012) Mol Cell Probes. 26:147-150
E6 c.1922T>C p.L641S Before TM2 rs186924074 Loudianos (1998) Hum Mutat. 12:89-94
E6 c.1934T>G p.M645R Before TM2 rs121907998 Margarit (2005) Clin Genet. 68:61-8
E7 c.2069C>T p.P690L TM2 rs1555291809 Margarit (2005) Clin Genet. 68:61-8
E8 c.2126delT  p.L709Pfs*14 TM2 - Novel
E8 c.2303C>T p.P768L TM4 rs1057516844 Brage (2007) Hepatol Res. 37:18-26
E8 c.2304dupC p.M769Hfs*26 TM4 rs780558532 Cocoş (2014) PLoS ONE 9(6):e98520
E8 c.2332C>T p.R778W TM4 rs137853284 Shah (1997) Am J Hum Genet. 61:317-328
E8 c.2332C>G  p.R778G TM4 rs137853284 Figus (1995) Am J Hum Genet 57:1318-1324
E8 c.2333G>T p.R778L TM4 rs28942074 Thomas (1995) Nat Genet. 9(2):210-217
E8 c.2335T>G  p.W779G TM4 rs751798708 Hofer (2012) J Hum Genet 57(9):564-567
I9 c.2447+1G>T splicing TM4 rs1057516732 Loudianos (2003) Genet Test. 7:2
E12 c.2762G>A p.S921N TM5 rs1230241288 Loudianos (1998) Hum Mutat. 12:89-94
E12 c.2804C>T  p.T935M TM5 rs750019452 Lepori (2007) Genet Test. 11:328-332
E13 c.2930C>T  p.T977M TM6 rs72552255 Margarit (2005) Clin Genet. 68:61-8
E13 c.2998G>A  p.G1000R TM6 rs751078884 Cox (2005) Hum Mutat. 26:280
E14 c.3061-12T>A splicing NBD
(P-domain)
rs1045194246 Loudianos (2002) Hum Mutat. 20:260-266
E14 c.3207C>A p.H1069Q NBD
(N-domain)
rs76151636 Tanzi (1993) Nat Genet. 5:344-350
E15 c.3254dupC p.G1086Rfs*32 NBD
(N-domain)
- Sánchez-Monteagudo (2020) Clin Genet 97(5):758-763
E15 c.3263T>A  p.L1088* NBD
(N-domain)
rs753250853 Deguti (2004) Hum Mutat 23:398
E15 c.3359T>A p.L1120* NBD
(N-domain)
- Margarit (2005) Clin Genet. 68:61-8
E15 c.3402delC p.A1135Qfs*13 NBD
(N-domain)
rs137853286 Paradisi (2015) Eur J Med Genet 58:59-65
E19 c.3932T>C p.I1311T TM7 - Huarte-Muniesa (2014) Gastroenterol Hepatol. 37(7):389-396
E19 c.3938T>G p.L1313R TM7 - Huarte-Muniesa (2014) Gastroenterol Hepatol. 37(7):389-396
E19 c.3971A>G p.N1324S TM7 rs760285767 Bost (2012) J Trace Elem Med Biol. 97– 101
E20 c.4022G>T  p.G1341V  TM7 - Cox (2005) Hum Mutat. 26:280
I20 c.4124+5G>A splicing TM8 rs1321980462 Li (2011) BMC Med Genet. 12,6
I20-E21 c.4125-1G>C splicing TM8 - Sánchez-Monteagudo (2020) Clin Genet 97(5):758-763

 

Abbreviations: Cu, copper binding domains; NBD, nucleotide binding domains (P and N domains); TM, transmembrane domains.

 

 

 

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