Variant position: 596 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 CHTTMAFLRDEADFRDKLSP IVLSLNVSLPPTEAGMAPAVV
Mouse CHTTGAFLRDEADFRDKLSP IVLSLNVSLPPEETGGAPAVV
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
32 – 1039 Integrin alpha-IIb
32 – 887 Integrin alpha-IIb heavy chain
32 – 993 Extracellular
601 – 601 N-linked (GlcNAc...) asparagine
596 – 603
Hematologically important mutations: Glanzmann thrombasthenia.
French D.L.; Coller B.S.;
Blood Cells Mol. Dis. 23:39-51(1997)
Cited for: VARIANTS GT ILE-207; THR-596 AND GLN-1026;
Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.
Ruan J.; Peyruchaud O.; Alberio L.; Valles G.; Clemetson K.; Bourre F.; Nurden A.T.;
Br. J. Haematol. 102:918-925(1998)
Cited for: VARIANTS GT LYS-355 AND THR-596;
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;
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.