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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35670: Variant p.Asn41Ser

Copper-transporting ATPase 2
Gene: ATP7B
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Variant information Variant position: help 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Asparagine (N) to Serine (S) at position 41 (N41S, p.Asn41Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In WD; affects copper-induced relocalization; the mutant is constitutively trafficked to the basolateral membrane instead of staying in the TGN under low copper conditions; does not affect interaction with COMMD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1465 The length of the canonical sequence.
Location on the sequence: help KLSLPTRAWEPAMKKSFAFD N VGYEGGLDGLGPSSQVATST 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KLSLP-------------------------TRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATST

Mouse                         KLALP-------------------------GRPWEQSMKQS

Rat                           KLALP-------------------------TRPWGQSMKQS

Sheep                         EEECPPPSEEGEFSQKVLNGSEEISSKQILSKLFQPAMKQS
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1465 Copper-transporting ATPase 2
Topological domain 1 – 653 Cytoplasmic
Modified residue 23 – 23 Phosphoserine
Mutagenesis 32 – 32 Missing. Does not affect copper-induced relocalization.
Mutagenesis 37 – 37 F -> A. Altered copper-induced relocalization.
Mutagenesis 39 – 39 F -> WA. Altered copper-induced relocalization.
Mutagenesis 39 – 39 F -> Y. Does not affect copper-induced relocalization.
Mutagenesis 40 – 40 D -> A. Altered copper-induced relocalization.
Mutagenesis 41 – 41 N -> A. Altered copper-induced relocalization.
Mutagenesis 42 – 42 V -> A. Altered copper-induced relocalization.
Mutagenesis 42 – 42 V -> I. Does not affect copper-induced relocalization.
Mutagenesis 43 – 43 G -> A. Altered copper-induced relocalization.
Mutagenesis 44 – 44 Y -> F. Does not affect copper-induced relocalization.
Mutagenesis 44 – 44 Y -> WA. Altered copper-induced relocalization.
Mutagenesis 45 – 45 E -> A. Altered copper-induced relocalization.



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; Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B.
Braiterman L.; Nyasae L.; Guo Y.; Bustos R.; Lutsenko S.; Hubbard A.;
Am. J. Physiol. 296:G433-G444(2009)
Cited for: CHARACTERIZATION OF VARIANT WD SER-41; SUBCELLULAR LOCATION; MUTAGENESIS OF ALA-32; PHE-37; PHE-39; ASP-40; ASN-41; VAL-42; GLY-43; TYR-44 AND GLU-45; Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
Deguti M.M.; Genschel J.; Cancado E.L.R.; Barbosa E.R.; Bochow B.; Mucenic M.; Porta G.; Lochs H.; Carrilho F.J.; Schmidt H.H.-J.;
Hum. Mutat. 23:398-398(2004)
Cited for: VARIANTS WD SER-41; GLY-949; LEU-1094; PRO-1232 AND ARG-1373;
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.