An αIIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the β-propeller (Asn2Asp) disrupts a calcium binding site in blade 6.
Mansour
W
W
Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Uri.Seligson@sheba.health.gov.il
Einav
Y
Y
Hauschner
H
H
Koren
A
A
Seligsohn
U
U
Rosenberg
N
N
D000293:Adolescent; D000595:Amino Acid Sequence; D000818:Animals; D018912:Arabs / Q000235:genetics; D001216:Asparagine; D001224:Aspartic Acid; D001665:Binding Sites; D001792:Blood Platelets / Q000378:metabolism*; D002118:Calcium / Q000097:blood / Q000378:metabolism*; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D006224:Cricetinae; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005973:Glutamine; D006487:Hemostasis / Q000235:genetics; D040941:Heredity; D006801:Humans; D006860:Hydrogen Bonding; D039421:Integrin alpha2 / Q000097:blood / Q000737:chemistry / Q000235:genetics*; D039661:Integrin beta3 / Q000097:blood; D007557:Israel; D007930:Leucine; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011487:Protein Conformation; D017434:Protein Structure, Tertiary; D021381:Protein Transport; D013915:Thrombasthenia / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D014162:Transfection
C056564:ITGA2B protein, human; C061248:ITGB3 protein, human; D039421:Integrin alpha2; D039661:Integrin beta3; D005973:Glutamine; D001224:Aspartic Acid; D001216:Asparagine; D007930:Leucine; D002118:Calcium