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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05106: Variant p.Leu143Trp

Integrin beta-3
Gene: ITGB3
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Variant information Variant position: help 143 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 Leucine (L) to Tryptophan (W) at position 143 (L143W, p.Leu143Trp). 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 hydrophobic (L) to large size and aromatic (W) 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 143 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 SKNFSIQVRQVEDYPVDIYY L MDLSYSMKDDLWSIQNLGTK 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                         SKNFSIQVRQVEDYPVDIYYLMDLSYSMKDDLWSIQNLGTK

Mouse                         SKIFSLQVRQVEDYPVDIYYLMDLSFSMKDDLSSIQTLGTK

Rat                           SKIFSLQVRQVEDYPVDIYYLMDLSFSMKDDLSSIQTLGTK

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 135 – 377 VWFA
Binding site 147 – 147 in MIDAS binding site
Binding site 149 – 149 in ADMIDAS binding site
Binding site 149 – 149 in MIDAS binding site
Binding site 152 – 152 in ADMIDAS binding site
Binding site 153 – 153 in ADMIDAS binding site
Glycosylation 125 – 125 N-linked (GlcNAc...) asparagine
Disulfide bond 39 – 461
Beta strand 138 – 145



Literature citations
A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface.
Basani R.B.; Brown D.L.; Vilaire G.; Bennett J.S.; Poncz M.;
Blood 90:3082-3088(1997)
Cited for: VARIANT GT2 TRP-143;
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.