UniProtKB/Swiss-Prot P08514: Variant p.Ala989Thr

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

989 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 Alanine (A) to Threonine (T) at position 989 (A989T, p.Ala989Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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 rs78165611 [ dbSNP | Ensembl ]

Sequence information Variant position:

989 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:

AVPPLSLPRGEAQVWTQLLR A LEERAIPIWWVLVGVLGGLL 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                         AVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLL

Mouse                         SVPVVSLPSGQARVQTQLLRALEERAIPVWWVLVGVLGGLL

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	891 – 1039	Integrin alpha-IIb light chain, form 1
Chain	903 – 1039	Integrin alpha-IIb light chain, form 2
Topological domain	32 – 993	Extracellular
Alternative sequence	910 – 1039	SCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAWFNVSSLPYAVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWKVGFFKRNRPPLEEDDEEGE -> VSRLSGLWPGLPGTHGAEGMGGGRGVRVCCGPLWATLGPWEHFK. In isoform 3.

Literature citations
Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia.
Nurden A.T.; Breillat C.; Jacquelin B.; Combrie R.; Freedman J.; Blanchette V.S.; Schmugge M.; Rand M.L.;
J. Thromb. Haemost. 2:813-819(2004)
Cited for: VARIANT GT1 MET-982; CHARACTERIZATION OF VARIANT GT1 MET-982; VARIANT THR-989; AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
Jallu V.; Dusseaux M.; Panzer S.; Torchet M.F.; Hezard N.; Goudemand J.; de Brevern A.G.; Kaplan C.;
Hum. Mutat. 31:237-246(2010)
Cited for: VARIANTS GT1 THR-405; THR-596; ARG-705; PRO-778; PHE-934; LEU-957; MET-982 AND THR-989; CHARACTERIZATION OF VARIANTS GT1 PHE-934 AND LEU-957;

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.