UniProtKB/Swiss-Prot P12318: Variant p.His167Arg

Low affinity immunoglobulin gamma Fc region receptor II-a
Gene: FCGR2A
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Variant information Variant position:

167 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 Histidine (H) to Arginine (R) at position 167 (H167R, p.His167Arg). 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 polar (H) to large size and basic (R) 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
Variant description:

Probable risk factor for lupus nephritis; does not efficiently recognize IgG2. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1801274 [ dbSNP | Ensembl ]

Sequence information Variant position:

167 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

317 The length of the canonical sequence.
Location on the sequence:

KDKPLVKVTFFQNGKSQKFS H LDPTFSIPQANHSHSGDYHC 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.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         KDKPLVKVTFFQNGKSQKFSHLDPTFSIPQANHSHSGDYHC

Chimpanzee                    KDKPLVKVTFFQNGKSQKFSHLDPNLSIPQANHSHSGDYHC

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	34 – 317	Low affinity immunoglobulin gamma Fc region receptor II-a
Topological domain	34 – 217	Extracellular
Domain	122 – 204	Ig-like C2-type 2
Glycosylation	178 – 178	N-linked (GlcNAc...) asparagine
Disulfide bond	143 – 187
Beta strand	161 – 168

Literature citations
Isolation and expression of cDNA clones encoding a human receptor for IgG (Fc gamma RII).
Stuart S.G.; Trounstine M.L.; Vaux D.J.T.; Koch T.; Martens C.L.; Moore K.W.;
J. Exp. Med. 166:1668-1684(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-167; Structure and expression of human IgG FcRII(CD32). Functional heterogeneity is encoded by the alternatively spliced products of multiple genes.
Brooks D.G.; Qiu W.Q.; Luster A.D.; Ravetch J.V.;
J. Exp. Med. 170:1369-1385(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-167; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANTS ARG-167 AND VAL-218; Molecular cloning of a human immunoglobulin G Fc receptor.
Hibbs M.L.; Bonadonna L.; Scott B.M.; McKenzie I.F.C.; Hogarth P.M.;
Proc. Natl. Acad. Sci. U.S.A. 85:2240-2244(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-317 (ISOFORM 1); VARIANT ARG-167; Isolation of cDNAs for two distinct human Fc receptors by ligand affinity cloning.
Stengelin S.; Stamenkovic I.; Seed B.;
EMBO J. 7:1053-1059(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-317 (ISOFORM 1); VARIANT ARG-167; Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans.
Salmon J.E.; Millard S.; Schachter L.A.; Arnett F.C.; Ginzler E.M.; Gourley M.F.; Ramsey-Goldman R.; Peterson M.G.E.; Kimberly R.P.;
J. Clin. Invest. 97:1348-1354(1996)
Cited for: VARIANT ARG-167;

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.