UniProtKB/Swiss-Prot P08514: Variant p.Gly313Ala

Integrin alpha-IIb
Gene: ITGA2B
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Variant information Variant position:

313 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 Glycine (G) to Alanine (A) at position 313 (G313A, p.Gly313Ala). 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 glycine (G) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 874 is associated with platelet-specific alloantigen HPA-3/BAK/LEK. HPA-3A/BAK(A)/LEK(A) has Ile-874 and HPA-3B/BAK(B)/LEK(B) has Ser-874. HPA-3B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1126554 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1039 The length of the canonical sequence.
Location on the sequence:

WTLGAVEILDSYYQRLHRLR G EQMASYFGHSVAVTDVNGDG 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                         WTLGAVEILDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDG

Mouse                         WTLGAVEILDSYYQPLHRLHGEQMASYFGHSVAVTDVNGDG

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	32 – 1039	Integrin alpha-IIb
Chain	32 – 887	Integrin alpha-IIb heavy chain
Topological domain	32 – 993	Extracellular
Repeat	306 – 371	FG-GAP 5
Binding site	328 – 328
Binding site	330 – 330
Binding site	332 – 332

Literature citations
Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors.
Poncz M.; Eisman R.; Heidenreich R.; Silver S.M.; Vilaire G.; Surrey S.; Schwartz E.; Bennett J.S.;
J. Biol. Chem. 262:8476-8482(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-313; GPIIb and GPIIIa amino acid sequences deduced from human megakaryocyte cDNAs.
Frachet P.; Uzan G.; Thevenon D.; Denarier E.; Prandini M.H.; Marguerie G.;
Mol. Biol. Rep. 14:27-33(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-313;

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.