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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08637: Variant p.Leu66His

Low affinity immunoglobulin gamma Fc region receptor III-A
Gene: FCGR3A
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Variant information Variant position: help 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Leucine (L) to Histidine (H) at position 66 (L66H, p.Leu66His). 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: help Change from medium size and hydrophobic (L) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In IMD20; loss of interaction with CD2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 254 The length of the canonical sequence.
Location on the sequence: help KCQGAYSPEDNSTQWFHNES L ISSQASSYFIDAATVDDSGE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGE

Rhesus macaque                KCQGAYSPEDNSTRWFHNESLISSQTSSYFIAAARVNNSGE

Mouse                         RCQGTFSPEDNSIKWFHNESLIPHQDANYVIQSARVKDSGM

Rat                           RCQGTFSPEDNSTKWFHNKSLISHQDANYVIQSARVKDSGM

Pig                           KCQGAYPPRDDSTEWRWNGTLISNKASSYSITDATVGNSGE

Bovine                        KCQGDYPVEDNSTKWWHNGTLISSQTPSYFIADVKVQDSGE

Rabbit                        KCQGLHPAGDNTTQWLHNGSLLSSQAPAYTITAARAEDGGE

Cat                           KCEGAYPPGDNSAQWWHNGSVIPHRAPSYSIEAARSEDSGE
Sequence annotation in neighborhood: help 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 24 – 105 Ig-like C2-type 1
Glycosylation 56 – 56 N-linked (GlcNAc...) asparagine
Glycosylation 63 – 63 N-linked (GlcNAc...) asparagine
Disulfide bond 47 – 89
Beta strand 65 – 68



Literature citations
A triallelic Fc gamma receptor type IIIA polymorphism influences the binding of human IgG by NK cell Fc gamma RIIIa.
de Haas M.; Koene H.R.; Kleijer M.; de Vries E.; Simsek S.; van Tol M.J.D.; Roos D.; von dem Borne A.E.G.K.;
J. Immunol. 156:2948-2955(1996)
Cited for: INVOLVEMENT IN IMD20; VARIANT IMD20 HIS-66; VARIANT ARG-66; FUNCTION; SUBUNIT; Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections.
de Vries E.; Koene H.R.; Vossen J.M.; Gratama J.W.; von dem Borne A.E.; Waaijer J.L.; Haraldsson A.; de Haas M.; van Tol M.J.;
Blood 88:3022-3027(1996)
Cited for: INVOLVEMENT IN IMD20; VARIANT IMD20 HIS-66; Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II).
Jawahar S.; Moody C.; Chan M.; Finberg R.; Geha R.; Chatila T.;
Clin. Exp. Immunol. 103:408-413(1996)
Cited for: VARIANT IMD20 HIS-66; Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity.
Grier J.T.; Forbes L.R.; Monaco-Shawver L.; Oshinsky J.; Atkinson T.P.; Moody C.; Pandey R.; Campbell K.S.; Orange J.S.;
J. Clin. Invest. 122:3769-3780(2012)
Cited for: VARIANT IMD20 HIS-66; FUNCTION; INTERACTION WITH CD2; SUBCELLULAR LOCATION;
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.