Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Wilson's disease - Mutation Database

 

Nucleotide change Amino acid change Symbol Transcript ID Reference
Exon 1 deletion Exon 1 deletion ATP7B NM_000053 Badenas-Orquín (2011) Gastroenterol Hepatol. 34(6):428—433
c.51+4A>T splicing ATP7B NM_000053 rs369488210
c.331C>T p.Q111* ATP7B NM_000053 rs774221179
c.1708-1G>A splicing ATP7B NM_000053 Margarit (2005) Clin Genet. 68:61-8
c.1739delA p.H580Pfs*2 ATP7B NM_000053 Lepori (2012) Mol Cell Probes. 26:147-150
c.1847G>A  p.R616Q ATP7B NM_000053 rs752850609
c.1922T>C p.L641S ATP7B NM_000053 rs186924074
c.1934T>G p.M645R ATP7B NM_000053 Margarit (2005) Clin Genet. 68:61-8
c.2069C>T p.P690L ATP7B NM_000053 Margarit (2005) Clin Genet. 68:61-8
c.2126delT  p.L709Pfs*14 ATP7B NM_000053 Novel
c.2303C>T p.P768L ATP7B NM_000053 Brage (2007) Hepatol Res. 37:18-26
c.2304dupC p.M769Hfs*26 ATP7B NM_000053 rs780558532
c.2332C>T p.R778W ATP7B NM_000053 rs137853284
c.2332C>G  p.R778G ATP7B NM_000053 rs137853284
c.2333G>T p.R778L ATP7B NM_000053 rs28942074
c.2335T>G  p.W779G ATP7B NM_000053 rs751798708
c.2447+1G>T splicing ATP7B NM_000053 Loudianos (2003) Genet Test. 7:2
c.2762G>A p.S921N ATP7B NM_000053 Loudianos (1998) Hum Mutat. 12:89-94
c.2930C>T  p.T977M ATP7B NM_000053 rs72552255
c.2998G>A  p.G1000R ATP7B NM_000053 rs751078884
c.3207C>A p.H1069Q ATP7B NM_000053 rs76151636
c.3254dupC p.G1086Rfs*32 ATP7B NM_000053 Novel
c.3359T>A p.L1120* ATP7B NM_000053 Margarit (2005) Clin Genet. 68:61-8
c.3402delC p.A1135Qfs*13 ATP7B NM_000053 rs137853286
c.3932T>C p.I1311T ATP7B NM_000053 Huarte-Muniesa (2014) Gastroenterol Hepatol. 37(7):389-396
c.3938T>G p.L1313R ATP7B NM_000053 Huarte-Muniesa (2014) Gastroenterol Hepatol. 37(7):389-396
c.3971A>G p.N1324S ATP7B NM_000053 Bost (2012) J Trace Elem Med Biol. 97– 101
c.4022G>T  p.G1341V  ATP7B NM_000053 Cox (2005) Hum Mutat. 26:280
c.4124+5G>A splicing ATP7B NM_000053 Li (2011) BMC Med Genet. 12,6
c.4125-1G>C splicing ATP7B NM_000053 Novel
c.4301C>T p.T1434M ATP7B NM_000053 rs60986317

 

 

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