Figure 2.

Identification of a de novo Leu718Pro mutation in β3. (A) Direct sequencing of the sense strand of the 3’ overlapping RT-PCR product showing a heterozygous T to C substitution that changes Leu718 to Pro in the β3 subunit of the thrombasthenic patient. (B) Detection of the T2231C mutation and the IVS14+9C>T polymorphism in family members. The haplotype of the deceased father was deduced from those of the other members. (C) Localization of the Leu718Pro mutation (encircled) in the membrane-proximal region (underlined) of the β3 cytoplasmic tail.