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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05106: Variant p.Cys64Tyr

Integrin beta-3
Gene: ITGB3
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Variant information Variant position: help 64 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 Cysteine (C) to Tyrosine (Y) at position 64 (C64Y, p.Cys64Tyr). 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 medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In GT2; severe type 1 phenotype; the mutation prevents normal ITGA2B/ITGB3 complex expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 64 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 AVSPMCAWCSDEALPLGSPR C DLKENLLKDNCAPESIEFPV 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                         AVSPMCAWCSDEALPLGSPRCDLKENLLKDNCAPESIEFPV

Mouse                         AVSPVCAWCSDETLSQGSPRCNLKENLLKDNCAPESIEFPV

Rat                           AVSPVCAWCSDESLPQNSPRCNLKKNLLKDKCSPESIEFPV

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 27 – 718 Extracellular
Domain 30 – 76 PSI
Disulfide bond 39 – 461
Disulfide bond 42 – 64
Disulfide bond 52 – 75
Beta strand 63 – 66



Literature citations
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 GT2 TYR-64; ARG-144; PRO-222; ASP-247 AND MET-279; CHARACTERIZATION OF VARIANTS TYR-64; PRO-222; ASP-247 AND MET-279; SUBCELLULAR LOCATION;
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.