Variant position: 749 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 788 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 AILLIGLAALLIWKLLITIH DRKEFAKFEEERARAKWDTAN
Mouse AILLIGLATLLIWKLLITIH DRKEFAKFEEERARAKWDTAN
Rat AILLIGLATLLIWKLLITIH DRKEFAKFEEERARAKWDTAN
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.
A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
Ghevaert C.; Salsmann A.; Watkins N.A.; Schaffner-Reckinger E.; Rankin A.; Garner S.F.; Stephens J.; Smith G.A.; Debili N.; Vainchenker W.; de Groot P.G.; Huntington J.A.; Laffan M.; Kieffer N.; Ouwehand W.H.;
Cited for: VARIANT BDPLT16 HIS-749; CHARACTERIZATION OF VARIANT BDPLT16 HIS-749;
A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin alphaIIbbeta3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.
Miyashita N.; Onozawa M.; Hayasaka K.; Yamada T.; Migita O.; Hata K.; Okada K.; Goto H.; Nakagawa M.; Hashimoto D.; Kahata K.; Kondo T.; Kunishima S.; Teshima T.;
Ann. Hematol. 97:629-640(2018)
Cited for: VARIANT BDPLT16 THR-746 DEL; CHARACTERIZATION OF VARIANTS BDPLT16 THR-746 DEL AND HIS-749;
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