UniProtKB/Swiss-Prot P31994: Variant p.Ile232Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 232 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 Isoleucine (I) to Threonine (T) at position 232 (I232T, p.Ile232Thr). 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 hydrophobic (I) to medium size and polar (T) 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: FCGR2B polymorphisms can influence susceptibility or resistance to malaria [MIM:611162]. Additional information on the polymorphism described.
Variant description: Risk factor for SLE; confers resistance to malaria; found at an increased frequency in African and Asian populations from areas where malaria is endemic; enhances phagocytosis of Plasmodium falciparum-infected erythrocytes in vitro. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1050501 [ dbSNP | Ensembl ]

Sequence information

Variant position: 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 310 The length of the canonical sequence.
Location on the sequence: ITVQAPSSSPMGIIVAVVTG I AVAAIVAAVVALIYCRKKRI 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.

Type	Positions	Description
Chain	43 – 310	Low affinity immunoglobulin gamma Fc region receptor II-b
Transmembrane	218 – 240	Helical

Literature citations

Fc-gamma-RIIb nucleotide sequences in SLE and non-SLE humans in vivo derived lymphocytes.
Ng S.; Sinclair N.R.S.; Anderson C.; Bell D.A.; Cairns E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS IIB1; IIB2; 4 AND 5); VARIANT THR-232; Fc gamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility.
Kyogoku C.; Dijstelbloem H.M.; Tsuchiya N.; Hatta Y.; Kato H.; Yamaguchi A.; Fukazawa T.; Jansen M.D.; Hashimoto H.; van de Winkel J.G.J.; Kallenberg C.G.M.; Tokunaga K.;
Arthritis Rheum. 46:1242-1254(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 132-253; INVOLVEMENT IN SLE; VARIANT THR-232; Systemic lupus erythematosus-associated defects in the inhibitory receptor FcgammaRIIb reduce susceptibility to malaria.
Clatworthy M.R.; Willcocks L.; Urban B.; Langhorne J.; Williams T.N.; Peshu N.; Watkins N.A.; Floto R.A.; Smith K.G.;
Proc. Natl. Acad. Sci. U.S.A. 104:7169-7174(2007)
Cited for: POLYMORPHISM; INVOLVEMENT IN RESISTANCE TO MALARIA; VARIANT THR-232; CHARACTERIZATION OF VARIANT THR-232; A defunctioning polymorphism in FCGR2B is associated with protection against malaria but susceptibility to systemic lupus erythematosus.
Willcocks L.C.; Carr E.J.; Niederer H.A.; Rayner T.F.; Williams T.N.; Yang W.; Scott J.A.; Urban B.C.; Peshu N.; Vyse T.J.; Lau Y.L.; Lyons P.A.; Smith K.G.;
Proc. Natl. Acad. Sci. U.S.A. 107:7881-7885(2010)
Cited for: POLYMORPHISM; INVOLVEMENT IN SLE; VARIANT THR-232; INVOLVEMENT IN RESISTANCE TO MALARIA;