UniProtKB/Swiss-Prot P08637: Variant p.Phe176Val

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

Variant rs396991 [ dbSNP | Ensembl ]

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.
Residue conservation:

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

Human                         DFYIPKATLKDSGSYFCRGLFGSKNVSSETVNITITQGLAV

Rhesus macaque                DFYIPKATLKDSGSYFCRGLIGSKNVSSETVNITITQDLAV

Mouse                         ELLIPKATHNDSGSYFCRGLIGHNNKSSASFRISL----GD

Rat                           ELSISKATHADSGSYFCRGIIGRNNISSASLQISI----GD

Pig                           EYHIPNATLKDGGSYFCRGIIKNYDLSSEPVKVTVQGSKSP

Bovine                        DFHIPEAKLEHSGSYFCRGIIGSKNESSESVQITVQAPETL

Rabbit                        DLHIPEATRNHSGSYFCRGLIGHHNMSSETVTITV-QGPAN

Cat                           DFYIPKATSKHSGSYFCRGLIGNKNESSEAVNITV-QGPPV

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	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.