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UniProtKB/Swiss-Prot Q8N743: Variant p.Arg52His

Killer cell immunoglobulin-like receptor 3DL3
Gene: KIR3DL3
Variant information

Variant position:  52
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Arginine (R) to Histidine (H) at position 52 (R52H, p.Arg52His).
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 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:  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

Polymorphism:  Various different KIR3DL3 alleles are known: KIR3DL3*00101, KIR3DL3*00102, KIR3DL3*00103, KIR3DL3*00201, KIR3DL3*00202, KIR3DL3*00203, KIR3DL3*00204, KIR3DL3*00205, KIR3DL3*00206, KIR3DL3*00207, KIR3DL3*0030101 KIR3DL3*0030102, KIR3DL3*00401, KIR3DL3*00402, KIR3DL3*005, KIR3DL3*00601, KIR3DL3*00602, KIR3DL3*007, KIR3DL3*00801, KIR3DL3*00802, KIR3DL3*00901, KIR3DL3*00902, KIR3DL3*010, KIR3DL3*01101, KIR3DL3*01102, KIR3DL3*012, KIR3DL3*01301, KIR3DL3*01302, KIR3DL3*01303, KIR3DL3*01304, KIR3DL3*01305, KIR3DL3*01306, KIR3DL3*01307, KIR3DL3*01401, KIR3DL3*01402, KIR3DL3*01403, KIR3DL3*01404, KIR3DL3*01405, KIR3DL3*015 KIR3DL3*016, KIR3DL3*017, KIR3DL3*018, KIR3DL3*019, KIR3DL3*020, KIR3DL3*021, KIR3DL3*022, KIR3DL3*023, KIR3DL3*024, KIR3DL3*025, KIR3DL3*026, KIR3DL3*027, KIR3DL3*028, KIR3DL3*029, KIR3DL3*030 and KIR3DL3*031. The sequence shown corresponds to the alleles KIR3DL3*002.
Additional information on the polymorphism described.

Variant description:  In allele KIR3DL3*00401, allele KIR3DL3*00402, allele KIR3DL3*00801, allele KIR3DL3*00802 and allele KIR3DL3*026.
Any additional useful information about the variant.

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

Sequence information

Variant position:  52
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  410
The length of the canonical sequence.

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.

Chain 26 – 410 Killer cell immunoglobulin-like receptor 3DL3
Topological domain 26 – 322 Extracellular
Domain 42 – 97 Ig-like C2-type 1
Disulfide bond 49 – 95

Literature citations

Inhibition of natural killer cell activation signals by killer cell immunoglobulin-like receptors (CD158).
Long E.O.; Barber D.F.; Burshtyn D.N.; Faure M.; Peterson M.; Rajagopalan S.; Renard V.; Sandusky M.; Stebbins C.C.; Wagtmann N.; Watzl C.;
Immunol. Rev. 181:223-233(2001)

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.