Leukocyte adhesion deficiency 1 (LAD-1) is caused by defects in the β2 integrin subunit. We studied 18 missense mutations, 14 of which fail to support the surface expression of the β2 integrins. Integrins with the β2-G150D mutation fail to bind ligands, possibly due to the failure of the α1 segment of the βI domain to assume an α-helical structure. Integrins with the β2-G716A mutation are not maintained in their resting states, and the patient has the severe phenotype of LAD-1. The β2-S453N and β2-P648L mutants support the expression of integrins and adhesion functions. They should be re-classified as polymorphic variants.
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| http://dx.doi.org/10.1016/j.bcmd.2014.11.005 | DOI Listing |
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[On predicting the T cell and B cell epitopes of platelet membrane glycoprotein II b/ III a antibody from human and mice].
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi
October 2010
Department of Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, China.
HLA-A * 0201, HLA-A * 1101, and HLA-A * 2401 CTL restricted epitopes of platelet membrane glycoprotein II b/III a antibody of human and mice were predicted by use of SYFPEITHI, RANKPEP, BIMAS, SVMHC, PREDEP, MHCPRED, and PROPRED predictive programs. In the results, the peptides (found in HLAPRED) that can lead to autoimmune disease and have been published were removed; and the epitopes of HLA-A * 0201 must cover the epitopes of HLA-A * 1101 and HLA-A * 2401 being combined to predTAP and TAPPred for predicting the binding affinity of peptides toward the TAP transporter and NetChop, MAPPP, PAProc for predicting cleavages; HLA-DR Th restricted epitopes of GPII b/III a antibody were predicted by SYFPEITHI, RANKPEP, MHCPRED, and HLAPRED, after removal of the peptides (found in HLAPRED) that can lead to autoimmune disease and have been published, the Th epitopes must cover the CTL mixed epitopes as being stated above. The secondary structure, hydrophobic regions, flexibility, surface probability and the B cell epitope were predicted by using various methods.
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