UniProtKB/Swiss-Prot O75015 : Variant p.Asn82Asp
Low affinity immunoglobulin gamma Fc region receptor III-B
Gene: FCGR3B
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Variant information
Variant position:
82
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 Aspartate (D) at position 82 (N82D, p.Asn82Asp).
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 (N) to medium size and acidic (D)
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
Polymorphism:
There are three allelic forms of FCGR3B: FCGR3B*01 (HNA-1a, NA-1), FCGR3B*02 (HNA-1b, NA-2) and FCGR3B*03 (HNA-1c, SH). FCGR3B*01 and FCGR3B*02 are detectable with antibodies against the biallelic neutrophil-specific antigen system NA. The more active FCGR3B*01 allele has been associated with severe renal disease in certain forms of systemic vasculitides.
Additional information on the polymorphism described.
Variant description:
In allele FCGR3B*01.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
82
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
233
The length of the canonical sequence.
Location on the sequence:
HNENLISSQASSYFIDAATV
N DSGEYRCQTNLSTLSDPVQL
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 HNENLISSQASSYFIDAATVN DSGEYRCQTNLSTLSDPVQL
Rabbit HNGSLLSSQAPAYTITAARAE DGGEYRCQTGLSSLSDPVQL
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 – 200
Low affinity immunoglobulin gamma Fc region receptor III-B
Domain
40 – 96
Ig-like C2-type 1
Glycosylation
63 – 63
N-linked (GlcNAc...) asparagine
Glycosylation
82 – 82
N-linked (GlcNAc...) asparagine
Glycosylation
92 – 92
N-linked (GlcNAc...) asparagine
Disulfide bond
47 – 89
Helix
81 – 83
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.