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UniProtKB/Swiss-Prot Q99706: Variant p.Pro209Ala

Killer cell immunoglobulin-like receptor 2DL4
Gene: KIR2DL4
Chromosomal location: 19q13.4
Variant information

Variant position:  209
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 Proline (P) to Alanine (A) at position 209 (P209A, p.Pro209Ala).
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 hydrophobic (P) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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

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



Sequence information

Variant position:  209
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  377
The length of the canonical sequence.

Location on the sequence:   HGETYRCFGSFHGSPYEWSD  P SDPLPVSVTGNPSSSWPSPT
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.

TypePositionsDescription
Chain 22 – 377 Killer cell immunoglobulin-like receptor 2DL4
Topological domain 22 – 242 Extracellular


Literature citations

NK cell receptor gene of the KIR family with two IG domains but highest homology to KIR receptors with three IG domains.
Selvakumar A.; Steffens U.; Dupont B.;
Tissue Antigens 48:285-294(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LEU-87; THR-138; ALA-209 AND HIS-371;

Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors.
Valiante N.M.; Uhrberg M.; Shilling H.G.; Lienert-Weidenbach K.; Arnett K.L.; D'Andrea A.; Phillips J.H.; Lanier L.L.; Parham P.;
Immunity 7:739-751(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS CYS-53; THR-138; ALA-209; ASN-271 AND HIS-371;

Polymorphism and domain variability of human killer cell inhibitory receptors.
Selvakumar A.; Steffens U.; Dupont B.;
Immunol. Rev. 155:183-196(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS LEU-87; THR-138; ALA-209 AND HIS-371;

Genomic organization and allelic polymorphism of the human killer cell inhibitory receptor gene KIR103.
Selvakumar A.; Steffens U.; Palanisamy N.; Chaganti R.S.K.; Dupont B.;
Tissue Antigens 49:564-573(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3; 4 AND 5); VARIANTS LEU-87; THR-138; ALA-209; ASN-271 AND HIS-371;

Submission
Biassoni R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 6); VARIANTS THR-138; ALA-209 AND ASN-271;

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.