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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14943: Variant p.Leu2Ser

Killer cell immunoglobulin-like receptor 3DS1
Gene: KIR3DS1
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Variant information Variant position: help 2 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Serine (S) at position 2 (L2S, p.Leu2Ser). 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 medium size and hydrophobic (L) to small size and polar (S) 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

Polymorphism: help The KIR genes are located in a segment of DNA on 19q13.4 in the leukocyte receptor complex that has undergone expansion and contraction over time, probably through unequal crossing-over. Thus, KIR haplotypes vary in the number and types of genes, although a few framework loci, such as the gene KIR3DL1, are present on all or nearly all haplotypes. KIR3DL1 and KIR3DS1 segregate as alleles of the locus KIR3DL1/3DS1. Additional information on the polymorphism described.
Variant description: help In allele KIR3DS1*010. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 382 The length of the canonical sequence.
Location on the sequence: help M L LMVVSMACVGLFLVQRAGPH 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: 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
Signal peptide 1 – 21



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.