Sequence information
Variant position: 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1465 The length of the canonical sequence.
Location on the sequence: G IISMKVSLEQGSATVKYVPS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LGMTCQSCVKSIEDRISNLKG IISMKVSLEQGSATVKYVPS
Mouse LGMTCHSCVKSIEDRISSLKG IVNIKVSLEQGSATVRYVPS
Rat LGMTCHSCVKSIEDRISSLKG IVSIKVSLEQGSATVKYVPS
Sheep VGMTCQSCVKSIEGRVSSLKG IVSIKVSLEQSSAEVRYVPS
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 1465 Copper-transporting ATPase 2
Topological domain
1 – 653 Cytoplasmic
Domain
59 – 125 HMA 1
Metal binding
69 – 69 Copper 1
Metal binding
72 – 72 Copper 1
Literature citations
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
de Bie P.; van de Sluis B.; Burstein E.; van de Berghe P.V.; Muller P.; Berger R.; Gitlin J.D.; Wijmenga C.; Klomp L.W.;
Gastroenterology 133:1316-1326(2007) Cited for: SUBCELLULAR LOCATION; INTERACTION WITH COMMD1 AND ATOX1; CHARACTERIZATION OF VARIANTS WD SER-41; VAL-85; SER-486; SER-492; HIS-532; LYS-541; ASP-591; PRO-604; GLN-616; TRP-616; ALA-626; SER-641; HIS-642 AND ARG-645;
Diverse functional properties of Wilson disease ATP7B variants.
Huster D.; Kuehne A.; Bhattacharjee A.; Raines L.; Jantsch V.; Noe J.; Schirrmeister W.; Sommerer I.; Sabri O.; Berr F.; Moessner J.; Stieger B.; Caca K.; Lutsenko S.;
Gastroenterology 142:947-956(2012) Cited for: CHARACTERIZATION OF VARIANTS WD VAL-85; SER-492; TRP-616; ALA-626; ARG-645; SER-710; LEU-760; ASN-765; VAL-769; LEU-840; THR-857; VAL-874; GLN-969; LEU-992; LEU-1052; LYS-1064; GLN-1069; PHE-1083; VAL-1213; VAL-1222; ARG-1266; SER-1270 AND LEU-1273; CHARACTERIZATION OF VARIANTS ALA-406; LEU-456 AND ARG-832; MUTAGENESIS OF ASP-1027 AND THR-1031; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Loudianos G.; Dessi V.; Lovicu M.; Angius A.; Nurchi A.; Sturniolo G.C.; Marcellini M.; Zancan L.; Bragetti P.; Akar N.; Yagci R.; Vegnente A.; Cao A.; Pirastu M.;
Hum. Mutat. 12:89-94(1998) Cited for: VARIANTS WD VAL-85; SER-492; 608-PHE-ASP-609 DELINS TYR; HIS-642; ARG-645; ILE-665; ARG-691; PHE-747; TRP-778; LEU-840; ASN-918; TRP-919; ASN-921; PRO-933; LEU-992; THR-1003; VAL-1018; TRP-1041; VAL-1089; MET-1146; GLY-1183; THR-1183; MET-1216; ASP-1341 AND SER-1358;
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu Y.-H.; Kodama H.; Du S.-L.; Gu Q.-J.; Sun H.-J.; Ushijima H.;
Clin. Genet. 64:479-484(2003) Cited for: VARIANTS WD VAL-85; GLY-765; LEU-778; MET-890; GLY-919; MET-935; TYR-975; LEU-992; ARG-1098; THR-1148; LYS-1173 AND ASN-1248; VARIANTS ASP-14; ALA-406; LEU-456; ARG-832; ALA-1140; ASN-1143 AND SER-1245;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.