Molecular Identification of Mutations

3 Mutations Affecting Ligand Binding Sites and Complex Stability 

The mutations that fell within this category have primarily been identified in GPIIIa and will be discussed first. These mutations were some of the first to be identified at the molecular level and their characterization identified important ligand and cation binding sites in GPIIIa. The majority of mutations that have been identified within GPIIb result in undetectable GPIIb/IIIa expression due to biosynthetic defects. Recently, some 

DehOut of frame DeLIn flame Missense Missense Missense Missense Missense Missense Missense Missense Del in firame,unk. Nonsense InsrOut of fimae Del Out of frme Nonsense DehOut of flame Nonsense Unk. Nonsense DeLhi flame Nonsense Unk Nonsense Unk Nonsense Unk Del/Ins Ih fiame Nonsense Nonsense Unk DeLIn frame Missense Del.Ih fiame InsrOut of fiame Missense Unk. 

Patient Genotype Exon Mutation Mutation Phenotype RNA Splicing Aminoacid Substitution Ref 

Amsterdam I Homozveote 2 VS2(+1)G- T Del Out of frame Alter. Premature tennination 147 

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