UniProtKB/Swiss-Prot P16671: Variant p.Ser127Leu

Platelet glycoprotein 4
Gene: CD36
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Variant information Variant position:

127 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 Serine (S) to Leucine (L) at position 127 (S127L, p.Ser127Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Genetic variations in CD36 are involved in susceptibility to malaria and influence the severity and outcome of malaria infection [MIM:611162]. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs201765331 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AEDNTVSFLQPNGAIFEPSL S VGTEADNFTVLNLAVAAASH 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                         AEDNTVSFLQPNGAIFEPSLSVGTEADNFTVLNLAVAAASH

Mouse                         PEDHTVSFVQPNGAIFEPSLSVGTEDDNFTVLNLAVAAAPH

Rat                           PKDSTVSFVQPNGAIFEPSLSVGTENDNFTVLNLAVAAAPH

Bovine                        PETHTVSFLQPNGAIFEPSLSVGTEDDTFTILNLAVAAAPQ

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	2 – 472	Platelet glycoprotein 4
Topological domain	30 – 439	Extracellular
Glycosylation	134 – 134	N-linked (GlcNAc...) asparagine
Beta strand	127 – 129

Literature citations
CD36 polymorphism is associated with protection from cerebral malaria.
Omi K.; Ohashi J.; Patarapotikul J.; Hananantachai H.; Naka I.; Looareesuwan S.; Tokunaga K.;
Am. J. Hum. Genet. 72:364-374(2003)
Cited for: VARIANT LEU-127; ROLE IN MALARIA INFECTION;

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.