UniProtKB/Swiss-Prot Q14943: Variant p.Arg166His

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 166 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 166 (R166H, p.Arg166His). 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: 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.
Other resources: Links to websites of interest for the variant.

• Variant rs375468097 [ dbSNP | Ensembl ]

Sequence information

Variant position: 166 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 382 The length of the canonical sequence.
Location on the sequence: SDIMFEHFFLHREWISKDPS R LVGQIHDGVSKANFSIGSMM 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.

Type	Positions	Description
Chain	22 – 382	Killer cell immunoglobulin-like receptor 3DS1
Topological domain	22 – 340	Extracellular
Domain	137 – 202	Ig-like C2-type 2
Glycosylation	179 – 179	N-linked (GlcNAc...) asparagine
Disulfide bond	144 – 195

Literature citations

Human diversity in killer cell inhibitory receptor genes.
Uhrberg M.; Valiante N.M.; Shum B.P.; Shilling H.G.; Lienert-Weidenbach K.; Corliss B.; Tyan D.; Lanier L.L.; Parham P.;
Immunity 7:753-763(1997)
Cited for: VARIANT HIS-166;