Title : Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.

Pub. Date : 1998 Jul 1

PMID : 9639514






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 One, inherited from a maternal allele, a T777 --> C point mutation in GPIbalpha converting Cys65 --> Arg within the second leucine rich repeat, the other, a single nucleotide substitution (G2078 --> A) for the tryptophan codon (TGG) causing a nonsense codon (TGA) at residue 498 within the transmembrane region of GPIbalpha, inherited from a mutant paternal allele. Leucine glycoprotein Ib platelet subunit alpha Homo sapiens