UniProtKB/Swiss-Prot P17301: Variant p.Glu534Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 534 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 534 (E534K, p.Glu534Lys). 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
Polymorphism: Position 534 is associated with platelet-specific alloantigen HPA-5 (Br). HPA-5B/Br(a) has Lys-534 and HPA-5A/Br(b) has Glu-534. HPA-5B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP). The Lys-534-Glu polymorphism may play a role in coronary artery disease (CAD). Additional information on the polymorphism described.
Variant description: In alloantigen HPA-5B. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1801106 [ dbSNP | Ensembl ]

Sequence information

Variant position: 534 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1181 The length of the canonical sequence.
Location on the sequence: PMYMSDLKKEEGRVYLFTIK E GILGQHQFLEGPEGIENTRF 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	30 – 1181	Integrin alpha-2
Topological domain	30 – 1132	Extracellular
Repeat	477 – 539	FG-GAP 5

Literature citations

The primary structure of the VLA-2/collagen receptor alpha 2 subunit (platelet GPIa): homology to other integrins and the presence of a possible collagen-binding domain.
Takada Y.; Hemler M.E.;
J. Cell Biol. 109:397-407(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 30-44; VARIANT LYS-534; The human platelet alloantigens Br(a) and Brb are associated with a single amino acid polymorphism on glycoprotein Ia (integrin subunit alpha 2).
Santoso S.; Kalb R.; Walka M.; Kiefel V.; Mueller-Eckhardt C.; Newman P.J.;
J. Clin. Invest. 92:2427-2432(1993)
Cited for: VARIANT LYS-534; POLYMORPHISM; The impact of the glycoprotein Ia collagen receptor subunit A1648G gene polymorphism on coronary artery disease and acute myocardial infarction.
Kroll H.; Gardemann A.; Fechter A.; Haberbosch W.; Santoso S.;
Thromb. Haemost. 83:392-396(2000)
Cited for: VARIANT LYS-534; POLYMORPHISM;