Variant position: 1434 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 PRATPWDQVSYVSQVSLSSL TSDKPSRHSAAADDDGDKWSL
Mouse PRATAWDQVSYVSQVSLSSL TSDRLSRHGGAAEDGGDKWSL
Rat PRATPWDQVSYVSQVSLSSL TSDRLSRHGGMAEDGGDKWSL
Sheep PRASAWDQVSYVSQVSLSPL KSDKLSRHSGAADDRGDKWSL
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
1372 – 1465 Cytoplasmic
Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.
Braiterman L.; Nyasae L.; Leves F.; Hubbard A.L.;
Am. J. Physiol. 301:G69-G81(2011)
Cited for: CHARACTERIZATION OF VARIANTS WD ARG-1373; PRO-1373; SER-1375; SER-1379 AND MET-1434;
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
Loudianos G.; Dessi V.; Lovicu M.; Angius A.; Altuntas B.; Giacchino R.; Marazzi M.; Marcellini M.; Sartorelli M.R.; Sturniolo G.C.; Kocak N.; Yuce A.; Akar N.; Pirastu M.; Cao A.;
J. Med. Genet. 36:833-836(1999)
Cited for: VARIANTS WD SER-710; ARG-711; LEU-840; VAL-874; GLN-969; VAL-1003; TRP-1041; PRO-1041; GLU-1061; VAL-1063; GLY-1068; GLN-1069; GLU-1089; PHE-1104; HIS-1151; THR-1169; LYS-1173; VAL-1222; PHE-1262; VAL-1327; PHE-1363 AND MET-1434; VARIANTS ARG-1207 AND ILE-1297;
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.