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UniProtKB/Swiss-Prot Q14953: Variant p.Ser2Leu

Killer cell immunoglobulin-like receptor 2DS5
Gene: KIR2DS5
Variant information

Variant position:  2
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Leucine (L) at position 2 (S2L, p.Ser2Leu).
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 small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Polymorphism:  The following alleles are known: KIR2DS5*001, KIR2DS5*002, KIR2DS5*003, KIR2DS5*004, KIR2DS5*005, KIR2DS5*006, KIR2DS5*007, KIR2DS5*008, KIR2DS5*009, KIR2DS5*010 and KIR2DS5*011. Allele KIR2DS5*002 is represented in this entry. Allele KIR2DS5*001 product is not expressed at the surface (PubMed:24269691, PubMed:18682925). In Europeans, KIR2DS5 is essentially monomorphic, with allele KIR2DS5*002 being predominant (PubMed:28685972). However, KIR2DS5 is highly polymorphic in Africans (PubMed:28685972). Alleles KIR2DS5*003, KIR2DS5*004, KIR2DS5*005, KIR2DS5*006, KIR2DS5*007 and KIR2DS5*008 have activating potential and recocognize C2 epitopes of HLA-C alleles (PubMed:28685972). Alleles KIR2DS5*002, KIR2DS5*009, KIR2DS5*010 and KIR2DS5*011 have activating potential but do not recocognize (or with very slight avidity) C2 epitopes of HLA-C alleles (PubMed:28685972). Allele KIR2DS5*006 protects pregnant women from pre-eclampsia (PubMed:28685972). Allele KIR2DS5*003 has increased glycosylation levels due to the variant Asn-144 instead of Ser-144, it also has increased cell surface expression. Alleles with variant Gly-179 instead of Arg-179 show lower levels of glycosylation (PubMed:24269691).
Additional information on the polymorphism described.

Variant description:  In allele KIR2DS5*001; not expressed at the cell surface when associated with P-132, S-185 and A-195 in allele KIR2DS5*001; no effect cell surface expression.
Any additional useful information about the variant.

Sequence information

Variant position:  2
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  304
The length of the canonical sequence.

Location on the sequence:   M  S LMVISMACVAFFLLQGAWPH
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.

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.

Signal peptide 1 – 21

Literature citations

Extracellular domain alterations impact surface expression of stimulatory natural killer cell receptor KIR2DS5.
Steiner N.K.; Dakshanamurthy S.; VandenBussche C.J.; Hurley C.K.;
Immunogenetics 60:655-667(2008)

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.