Variant position: 1003 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:
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 CPCSLGLATPTAVMVGTGVA AQNGILIKGGKPLEMAHKIKT
Mouse CPCSLGLATPTAVMVGTGVA AQNGVLIKGGKPLEMAHKIKT
Rat CPCSLGLATPTAVMVGTGVA AQNGVLIKGGKPLEMAHKIKT
Sheep CPCSLGLATPTAVMVGTGVA AQNGILIKGGKPLEMAHKIKT
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
1 – 1465 Copper-transporting ATPase 2
995 – 1322 Cytoplasmic
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;
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Okada T.; Shiono Y.; Hayashi H.; Satoh H.; Sawada T.; Suzuki A.; Takeda Y.; Yano M.; Michitaka K.; Onji M.; Mabuchi H.;
Hum. Mutat. 15:454-462(2000)
Cited for: VARIANTS WD ILE-769; LEU-778; TRP-778; VAL-874; GLY-919; THR-1003; PHE-1083; SER-1186; ALA-1267; SER-1270; THR-1336 AND PRO-1373; VARIANTS ALA-406; LEU-456 AND ALA-1140;
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
Kumar S.; Thapa B.R.; Kaur G.; Prasad R.;
Clin. Genet. 67:443-445(2005)
Cited for: VARIANTS WD HIS-992; THR-1003; THR-1102; TYR-1104 AND ARG-1256;
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
Todorov T.; Savov A.; Jelev H.; Panteleeva E.; Konstantinova D.; Krustev Z.; Mihaylova V.; Tournev I.; Tankova L.; Tzolova N.; Kremensky I.;
Clin. Genet. 68:474-476(2005)
Cited for: VARIANTS WD GLN-616; ALA-626; TRP-778; GLY-778; VAL-874; GLN-969; THR-1003; GLN-1069; 1217-VAL-LEU-1218 DEL; SER-1270; TYR-1279; ASP-1341; SER-1352 AND PRO-1368;
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.