UniProtKB/Swiss-Prot P35670: Variant p.Asp1296Asn

Copper-transporting ATPase 2
Gene: ATP7B
Chromosomal location: 13q14.3
Variant information

Variant position:  1296
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Aspartate (D) to Asparagine (N) at position 1296 (D1296N, p.Asp1296Asn).
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:  Change from medium size and acidic (D) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Involvement in disease:  Wilson disease (WD) [MIM:277900]: An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In WD.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1296
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:   AQADMGVAIGTGTDVAIEAA  D VVLIRNDLLDVVASIHLSKR
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                         AQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKR

Mouse                         AQADVGIAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKR

Rat                           AQADVGIAIGTGTDVAIDAADVVLIRNDLLDVVASIHLSKR

Sheep                         AQADVGIAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSRR

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.

TypePositionsDescription
Chain 1 – 1465 Copper-transporting ATPase 2
Topological domain 995 – 1322 Cytoplasmic


Literature citations

Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.
Ohya K.; Abo W.; Tamaki H.; Sugawara C.; Endo T.; Nomachi S.; Fukushi M.; Kinebuchi M.; Matsuura A.;
Eur. J. Pediatr. 161:124-126(2002)
Cited for: VARIANTS WD PHE-1083 AND ASN-1296;

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.