| 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 |