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UniProtKB/Swiss-Prot P16671: Variant p.Thr470Ile

Platelet glycoprotein 4
Gene: CD36
Variant information

Variant position:  470
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 Threonine (T) to Isoleucine (I) at position 470 (T470I, p.Thr470Ile).
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 (T) to medium size and hydrophobic (I)
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:  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.

Sequence information

Variant position:  470
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:   SVGVVMFVAFMISYCACRSK  T IK
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                         SVGVVMFVAFMISYCACRSKTIK

Mouse                         GIGVVMFVAFMISYCACKSKNGK

Rat                           GVGVVMFVAFMISYCACRSKNGK

Bovine                        SVGVVMFIAFMISYCACRSKRVN

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.

Chain 2 – 472 Platelet glycoprotein 4
Topological domain 462 – 472 Cytoplasmic
Region 460 – 472 Interaction with PTK2, PXN and LYN
Site 463 – 463 Critical for TLR4-TLR6 dimerization and signaling
Lipidation 464 – 464 S-palmitoyl cysteine
Lipidation 466 – 466 S-palmitoyl cysteine
Cross 469 – 469 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross 472 – 472 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence 289 – 472 Missing. In isoform 2.
Mutagenesis 462 – 472 SYCACRSKTIK -> AAAAAAAAAAA. No effect on cell surface location. Loss of oxLDL-induced NF-kappa-B activation.
Mutagenesis 463 – 463 Y -> A. No effect on cell surface location. Loss of oxLDL-induced NF-kappa-B activation. Loss of complex formation with TLR4 and TLR6.
Mutagenesis 464 – 464 C -> S. No effect on cell surface location, nor on oxLDL-induced NF-kappa-B activation.
Mutagenesis 469 – 472 KTIK -> ATIA. Abolishes ubiquitination induced by lipids. Enhances fatty acid uptake.

Literature citations

Frequency of CD36 deficiency and identification of novel CD36 gene mutations in the Chinese population.
Wu G.-G.; Curtis B.R.; He B.-R.; Zhou Z.-L.; Zhou Y.; Yang Y.-L.; Li H.-Y.; Shen W.-D.; Liu J.-L.; Zhao T.-M.;

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.