UniProtKB/Swiss-Prot P08514: Variant p.Ile874Ser

Integrin alpha-IIb
Gene: ITGA2B
Feedback?

Variant information Variant position:

874 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 Isoleucine (I) to Serine (S) at position 874 (I874S, p.Ile874Ser). 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 hydrophobic (I) to small size and polar (S) 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 variants in ITGA2B define different platelet-specific alloantigen systems that are involved in fetomaternal alloimmune thromobocytopenia. Alloantigen system Bak, also known as HPA-3 or Lek, is characterized by variant p.Ser874Ile (alloantigen Bak(a) or Lek(a) or HPA-3a) and variant p.Ile874Ser (alloantigen Bak(b) or Lek(b) or HPA-3b) (PubMed:2350579, PubMed:7197082, PubMed:14516468, PubMed:15569236). Additional platelet-specific alloantigens involved in fetomaternal alloimmune thromobocytopenia are known (PubMed:7620155, PubMed:19821948, PubMed:23305224). Additional information on the polymorphism described.
Variant description:

Risk factor for FMAIT2; alloantigen Bak(b). Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs5911 [ dbSNP | Ensembl ]

Sequence information Variant position:

874 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:

GLQCFPQPPVNPLKVDWGLP I PSPSPIHPAHHKRDRRQIFL 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                         GLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFL

Mouse                         GLLCSTQPSP---KVDWKLSTPSPSSIRPVHHQRERRQAFL

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
Modified residue	891 – 891	Pyrrolidone carboxylic acid; in light chain form 1
Glycosylation	874 – 874	O-linked (GalNAc...) serine; in variant S-874
Glycosylation	878 – 878	O-linked (GalNAc...) serine
Disulfide bond	857 – 921	Interchain (between heavy and light chains)

Literature citations
Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen system.
Lyman S.; Aster R.H.; Visentin G.P.; Newman P.J.;
Blood 75:2343-2348(1990)
Cited for: VARIANT SER-874; POLYMORPHISM; DESCRIPTION OF ALLOANTIGEN SYSTEM BAK;
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS ILE-40; SER-874 AND ASN-968;

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.