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UniProtKB/Swiss-Prot P08637: Variant p.Phe176Val

Low affinity immunoglobulin gamma Fc region receptor III-A
Gene: FCGR3A
Variant information

Variant position:  176
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 Phenylalanine (F) to Valine (V) at position 176 (F176V, p.Phe176Val).
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 aromatic (F) to medium size and hydrophobic (V)
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

Variant description:  Shows a higher binding capacity for IgG1, IgG3 and IgG4.
Any additional useful information about the variant.

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



Sequence information

Variant position:  176
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  254
The length of the canonical sequence.

Location on the sequence:   DFYIPKATLKDSGSYFCRGL  F GSKNVSSETVNITITQGLAV
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.

TypePositionsDescription
Chain 17 – 254 Low affinity immunoglobulin gamma Fc region receptor III-A
Topological domain 17 – 208 Extracellular
Domain 107 – 189 Ig-like C2-type 2
Glycosylation 180 – 180 N-linked (GlcNAc...) asparagine
Glycosylation 187 – 187 N-linked (GlcNAc...) asparagine
Beta strand 168 – 176


Literature citations

Submission
Suzuki Y.; Sugano S.; Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT VAL-176;

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]; VARIANT VAL-176;

Human glomerular mesangial cells express CD16 and may be stimulated via this receptor.
Morcos M.; Hansch G.M.; Schonermark M.; Ellwanger S.; Harle M.; Heckl-Ostreicher B.;
Kidney Int. 46:1627-1634(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 22-254; VARIANT VAL-176;

Fc gammaRIIIa-158V/F polymorphism influences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype.
Koene H.R.; Kleijer M.; Algra J.; Roos D.; von dem Borne A.E.G.K.; de Haas M.;
Blood 90:1109-1114(1997)
Cited for: VARIANT VAL-176; FUNCTION; SUBUNIT;

A novel polymorphism of FcgammaRIIIa (CD16) alters receptor function and predisposes to autoimmune disease.
Wu J.; Edberg J.C.; Redecha P.B.; Bansal V.; Guyre P.M.; Coleman K.; Salmon J.E.; Kimberly R.P.;
J. Clin. Invest. 100:1059-1070(1997)
Cited for: VARIANT VAL-176;

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.