Variant position: 705 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:
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 PQGAHYMRALSNVEGFERLI CNQKKENETRVVLCELGNPMK
Mouse PPGAHYMRALSNIEGFERLV CTQKKENESRVALCELGNPMK
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.
Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.
Gonzalez-Manchon C.; Fernandez-Pinel M.; Arias-Salgado E.G.; Ferrer M.; Alvarez M.-V.; Garcia-Munoz S.; Ayuso M.S.; Parrilla R.;
Cited for: VARIANT GT ARG-705; CHARACTERIZATION OF VARIANT GT ARG-705;
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.
D'Andrea G.; Colaizzo D.; Vecchione G.; Grandone E.; Di Minno G.; Margaglione M.;
Thromb. Haemost. 87:1034-1042(2002)
Cited for: VARIANTS GT VAL-139; ALA-176; GLU-267; ASP-380; THR-405; ASP-581; ARG-705; VAL-752 AND PRO-755;
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 GT THR-405; THR-596; ARG-705; PRO-778; PHE-934; LEU-957; MET-982 AND THR-989; CHARACTERIZATION OF VARIANTS GT PHE-934 AND LEU-957;
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