UniProtKB/Swiss-Prot P35613: Variant p.Glu208Lys

Basigin
Gene: BSG
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Variant information Variant position:

208 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 Glutamate (E) to Lysine (K) at position 208 (E208K, p.Glu208Lys). 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 acidic (E) to large size and basic (K) 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:

In Ok(A-); 2-fold reduction in the binding affinity for P.falciparum RH5 with reduced erythrocyte invasion by P.falciparum isolates 3D7 and Dd2. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs104894669 [ dbSNP | Ensembl ]

Sequence information Variant position:

208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

385 The length of the canonical sequence.
Location on the sequence:

TEFKVDSDDQWGEYSCVFLP E PMGTANIQLHGPPRVKAVKS 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                         TEFKVDS--DDQWGEYSCVFLPEPMGTANIQLHGPPRVKAVKS

Mouse                         TKYIVDA--DDRSGEYSCIFLPEPVGRSEINVEGPPRIKVG

Rat                           MKYTVDA--DDRSGEYSCIFLPEPVGRGNINVEGPPRIKVG

Rabbit                        TEHNVTG--DDRFGKYSCLFLPKDTGEATLTVDGPPRIKAV

Chicken                       ISYTIEGKVEDHSGVYECIYNTNPVAKGNVSIEVEPQVVAY

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	22 – 385	Basigin
Topological domain	138 – 323	Extracellular
Domain	138 – 219	Ig-like C2-type
Alternative sequence	1 – 209	Missing. In isoform 3.

Literature citations
Basigin is a receptor essential for erythrocyte invasion by Plasmodium falciparum.
Crosnier C.; Bustamante L.Y.; Bartholdson S.J.; Bei A.K.; Theron M.; Uchikawa M.; Mboup S.; Ndir O.; Kwiatkowski D.P.; Duraisingh M.T.; Rayner J.C.; Wright G.J.;
Nature 480:534-537(2011)
Cited for: FUNCTION (ISOFORMS 1 AND 2) (MICROBIAL INFECTION); INTERACTION WITH P.FALCIPARUM RH5 (ISOFORMS 1 AND 2) (MICROBIAL INFECTION); GLYCOSYLATION; VARIANTS ASN-152; LEU-176; PRO-206; LYS-208 AND VAL-269; MUTAGENESIS OF ASN-160; ASN-268 AND ASN-302; The Ok(a) blood group antigen is a marker for the M6 leukocyte activation antigen, the human homolog of OX-47 antigen, basigin and neurothelin, an immunoglobulin superfamily molecule that is widely expressed in human cells and tissues.
Spring F.A.; Holmes C.H.; Simpson K.L.; Mawby W.J.; Mattes M.J.; Okubo Y.; Parsons S.F.;
Eur. J. Immunol. 27:891-897(1997)
Cited for: VARIANT LYS-208;

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.