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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05106: Variant p.Ser778Pro

Integrin beta-3
Gene: ITGB3
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Variant information Variant position: help 778 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Serine (S) to Proline (P) at position 778 (S778P, p.Ser778Pro). 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: help Change from small size and polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In GT2; variant Strasbourg-1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 778 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 788 The length of the canonical sequence.
Location on the sequence: help EERARAKWDTANNPLYKEAT S TFTNITYRGT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EERARAKWDTANNPLYKEATSTFTNITYRGT

Mouse                         EERARAKWDTANNPLYKEATSTFTNITYRGT

Rat                           EERARAKWDTANNPLYKEATSTFTNITYRGT
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 27 – 788 Integrin beta-3
Topological domain 742 – 788 Cytoplasmic
Motif 777 – 783 LIR
Modified residue 767 – 767 Phosphothreonine
Modified residue 773 – 773 Phosphotyrosine
Modified residue 779 – 779 Phosphothreonine; by PDPK1 and PKB/AKT1; in vitro
Modified residue 785 – 785 Phosphotyrosine
Alternative sequence 768 – 788 ANNPLYKEATSTFTNITYRGT -> VRDGAGRFLKSLV. In isoform Beta-3B.
Alternative sequence 768 – 788 ANNPLYKEATSTFTNITYRGT -> HYAQSLRKWNQPVSIDG. In isoform Beta-3C.
Mutagenesis 773 – 773 Y -> A. No effect on cell surface location but impairs interaction with TNS3 and PEAK1.
Mutagenesis 785 – 785 Y -> A. No effect on cell surface location but impairs interaction with TNS3 and PEAK1.
Helix 776 – 779



Literature citations
Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.
Chen Y.-P.; Djaffar I.; Pidard D.; Steiner B.; Cieutat A.-M.; Caen J.P.; Rosa J.-P.;
Proc. Natl. Acad. Sci. U.S.A. 89:10169-10173(1992)
Cited for: VARIANT GT2 PRO-778;
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.