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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98194: Variant p.Ala731Asp

Calcium-transporting ATPase type 2C member 1
Gene: ATP2C1
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Variant information Variant position: help 731 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 Alanine (A) to Aspartate (D) at position 731 (A731D, p.Ala731Asp). 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 small size and hydrophobic (A) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 HHD. Any additional useful information about the variant.


Sequence information Variant position: help 731 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 919 The length of the canonical sequence.
Location on the sequence: help IAALTLISLATLMNFPNPLN A MQILWINIIMDGPPAQSLGV 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                         IAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGV

Mouse                         IAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGV

Rat                           IAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGV

Bovine                        IAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGV
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 – 919 Calcium-transporting ATPase type 2C member 1
Transmembrane 730 – 750 Helical; Name=6
Binding site 738 – 738
Binding site 742 – 742
Mutagenesis 747 – 747 Q -> A. Increases manganese transporter activity.



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 HHD GLU-220; VAL-309; 609-GLN--VAL-919 DEL; 730-ASN-ALA-731 DEL AND ASP-731;
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.