A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient.
We report a novel 465T-->C (S123P) mutation in exon 3 of the GPIIIalpha gene in a patient with type III or variant Glanzmann's thrombasthenia (GT). Though this mutation did not affect fibrinogen binding to GPIIb-IIIalpha in activated platelets, it interfered with the platelet aggregation in a manner similar to GT.
Nair
Sona
S
Ghosh
Kanjaksha
K
Shetty
Shrimati
S
Mohanty
Dipika
D
D019943:Amino Acid Substitution; D002648:Child; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000378:metabolism; D005434:Flow Cytometry; D006801:Humans; D007194:India; D039661:Integrin beta3 / Q000737:chemistry / Q000235:genetics*; D020125:Mutation, Missense; D010974:Platelet Aggregation; D017354:Point Mutation; D011485:Protein Binding; D017434:Protein Structure, Tertiary / Q000235:genetics; D013915:Thrombasthenia / Q000235:genetics*
D039661:Integrin beta3; D005340:Fibrinogen