Functional outcomes:

Among patients with recurrent Myocardial Infarction the Tyr2561-VWF variant is more common than control, particularly in younger women. (Caveat, need a larger study as this result is suggestive)

functionally characterized Tyr2561-VWF compared with Phe2561-VWF in carriers of the respective variants by 3 static and 2 shear-based assays.

in one static assay, using isolated GPIIb/IIIa from platelets, found no enhanced binding for rTyr2561-VWF, but a slightly enhanced binding for rTyr2561-VWF coexpressed with rPhe2561-VWF. (Caveat, cannot confirm these results by using cell-based binding assay with constitutatively GPIIb/IIIa incorporated in the cell membrane)

In shear conditions measured by CPA, platelet aggregate size in blood of TYR2561 probands was significantly increased at all shear conditions compared to homozygous Phe2561 carriers. Using recombinant Tyr2561-VWF, confirmed specificity of the effect for VWF.

Recombinant variant causes marked decreae in critical shear rate for collective network formation of VWF and platelets to less than 50%. complementary evidence for GOF of Tyr2561-VWF under high-shear conditions. In accordance with clinical data.