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UniProtKB/Swiss-Prot P16615: Variant p.Cys560Arg

Sarcoplasmic/endoplasmic reticulum calcium ATPase 2
Gene: ATP2A2
Variant information

Variant position:  560
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Cysteine (C) to Arginine (R) at position 560 (C560R, p.Cys560Arg).
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 polar (C) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  In DD; neuropsychiatric phenotype.
Any additional useful information about the variant.

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



Sequence information

Variant position:  560
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1042
The length of the canonical sequence.

Location on the sequence:   VKQKIMSVIREWGSGSDTLR  C LALATHDNPLRREEMHLEDS
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                         VKQKIMSVIREWGSGSDTLRCLALATHDNPLRREEMHLEDS

                              VKQKVMSVIREWGSGSDTLRCLALATHDNPLRREEMNLEDS

Mouse                         VKQKIMSVIREWGSGSDTLRCLALATHDNPLKREEMHLEDS

Rat                           VKQKIMSVIREWGSGSDTLRCLALATHDNPLRREEMHLEDS

Pig                           VKQKIMSVIREWGSGSDTLRCLALATHDNPMRREEMNLEDS

Rabbit                        VKQKIMSVIREWGSGSDTLRCLALATHDNPLRREEMHLKDS

Cat                           VKQKVMSVIREWGSGSDTLRCLALATHDNPLRREEMNLEDS

Chicken                       IKQKIMSVIREWGTGRDTLRCLALATHDNPPRKEEMNLEDS

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 – 1042 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2
Topological domain 314 – 756 Cytoplasmic
Binding site 559 – 559 ATP
Modified residue 580 – 580 Phosphoserine
Beta strand 559 – 568


Literature citations

ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
Jacobsen N.J.O.; Lyons I.; Hoogendoorn B.; Burge S.; Kwok P.-Y.; O'Donovan M.C.; Craddock N.; Owen M.J.;
Hum. Mol. Genet. 8:1631-1636(1999)
Cited for: VARIANTS DD THR-39; ARG-560 AND LEU-765;

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.