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UniProtKB/Swiss-Prot P16615: Variant p.Leu590Pro

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

Variant position:  590
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 Leucine (L) to Proline (P) at position 590 (L590P, p.Leu590Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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.
Any additional useful information about the variant.



Sequence information

Variant position:  590
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:   LRREEMHLEDSANFIKYETN  L TFVGCVGMLDPPRIEVASSV
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                         LRREEMHLEDSANFIKYETNLTFVGCVGMLDPPRIEVASSV

                              LRREEMNLEDSANFIKYETNLTFVGCVGMLDPPRIEVASSV

Mouse                         LKREEMHLEDSANFIKYETNLTFVGCVGMLDPPRIEVASSV

Rat                           LRREEMHLEDSANFIKYETNLTFVGCVGMLDPPRIEVASSV

Pig                           MRREEMNLEDSANFIKYETNLTFVGCVGMLDPPRIEVASSV

Rabbit                        LRREEMHLKDSANFIKYETNLTFVGCVGMLDPPRIEVASSV

Cat                           LRREEMNLEDSANFIKYETNLTFVGCVGMLDPPRIEVASSV

Chicken                       PRKEEMNLEDSSNFINYETNLTFVGCVGMLDPPRIEVASSI

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
Region 575 – 594 Interaction with HAX1
Modified residue 580 – 580 Phosphoserine
Beta strand 587 – 599


Literature citations

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 associated with Darier disease and Hailey-Hailey disease.
Nellen R.G.; Steijlen P.M.; van Steensel M.A.; Vreeburg M.; Frank J.; van Geel M.;
Hum. Mutat. 38:343-356(2017)
Cited for: VARIANTS DD 74-VAL--GLN-108 DEL; SER-101; GLN-131; 194-VAL--PRO-197 DEL; PRO-590; ALA-625; GLU-626; 666-ARG--SER-1042 DEL; PRO-672; PRO-691; TRP-750; TRP-765; GLY-849 INS; PRO-900 AND ARG-943;

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.