UniProtKB/Swiss-Prot Q99706: Variant p.Asn371His

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 371 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 Asparagine (N) to Histidine (H) at position 371 (N371H, p.Asn371His). 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: Similar physico-chemical property. Both residues are medium size and polar. 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.

• Variant rs1185997484 [ dbSNP | Ensembl ]

Sequence information

Variant position: 371 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: ALMGSSRETTALSQTQLASS N VPAAGI 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 – 377	Killer cell immunoglobulin-like receptor 2DL4
Topological domain	264 – 377	Cytoplasmic
Region	338 – 377	Disordered
Compositional bias	352 – 377	Polar residues

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;