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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53680: Variant p.Arg15His

AP-2 complex subunit sigma
Gene: AP2S1
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Variant information Variant position: help 15 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 Arginine (R) to Histidine (H) at position 15 (R15H, p.Arg15His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild-type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 15 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 142 The length of the canonical sequence.
Location on the sequence: help MIRFILIQNRAGKT R LAKWYMQFDDDEKQKLIEEV 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                         MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEV

Mouse                         MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEV

Rat                           MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEV

Bovine                        MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEV
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 – 142 AP-2 complex subunit sigma
Beta strand 14 – 19



Literature citations
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Nesbit M.A.; Hannan F.M.; Howles S.A.; Reed A.A.; Cranston T.; Thakker C.E.; Gregory L.; Rimmer A.J.; Rust N.; Graham U.; Morrison P.J.; Hunter S.J.; Whyte M.P.; McVean G.; Buck D.; Thakker R.V.;
Nat. Genet. 45:93-97(2013)
Cited for: FUNCTION; INVOLVEMENT IN HHC3; VARIANTS HHC3 CYS-15; HIS-15 AND LEU-15; CHARACTERIZATION OF VARIANTS HHC3 CYS-15; HIS-15 AND LEU-15;
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.