Variant position: 90 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:
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 VQNPQEVMMNSSNIQVKQRG PYTYRVRFLAKENVTQDAEDN
Mouse VQNPDDVAKNSSKIKVKQRG PYTYRVRYLAKENITQDPEDH
Rat VQNPEEVAKNSSKIKVKQRG PYTYRVRYLAKENITQDPKDS
Bovine VQNPDEVTVNSSKIKVKQRG PYTYRVRYLAKENITQDPETH
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
2 – 472 Platelet glycoprotein 4
30 – 439 Extracellular
79 – 79 N-linked (GlcNAc...) asparagine
102 – 102 N-linked (GlcNAc...) asparagine
83 – 96
Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.
Kashiwagi H.; Tomiyama Y.; Honda S.; Kosugi S.; Shiraga M.; Nagao N.; Sekiguchi S.; Kanayama Y.; Kurata Y.; Matsuzawa Y.;
J. Clin. Invest. 95:1040-1046(1995)
Cited for: VARIANT PG4D SER-90;
Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency.
Hanawa H.; Watanabe K.; Nakamura T.; Ogawa Y.; Toba K.; Fuse I.; Kodama M.; Kato K.; Fuse K.; Aizawa Y.;
J. Med. Genet. 39:286-291(2002)
Cited for: VARIANTS PG4D SER-90; LEU-254 AND LEU-413;
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