ABCB2 p.Leu33Pro
Predicted by SNAP2: | A: N (53%), C: N (72%), D: D (71%), E: D (66%), F: N (66%), G: D (59%), H: D (53%), I: N (87%), K: D (59%), M: N (93%), N: D (59%), P: D (59%), Q: N (57%), R: D (59%), S: N (57%), T: N (66%), V: N (82%), W: D (71%), Y: N (57%), |
Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Genetic susceptibility and anti-human platelet ant... Hum Immunol. 1996 Apr;46(2):114-9. Semana G, Zazoun T, Alizadeh M, Morel-Kopp MC, Genetet B, Kaplan C
Genetic susceptibility and anti-human platelet antigen 5b alloimmunization role of HLA class II and TAP genes.
Hum Immunol. 1996 Apr;46(2):114-9., [PMID:8727210]
Abstract [show]
Platelet alloimmunization may result in post-transfusion purpura, and during pregnancy may cause neonatal alloimmune thrombocytopenia (NAIT), with a frequency estimated at 1.3 per 1000 live births. The risk of morbidity is significant: 20% of affected infants have neurologic sequelae and the death rate is about 10%. A better understanding of the immune response to platelet alloantigens would allow for a better definition, and thus better management of pregnant women at high risk. Limited data are available on the immune response against HPA-5b, the second most frequent antigen, after HPA-1a, implicated in NAIT. We studied HLA class II and TAP gene polymorphism in 50 women immunized against HPA-5 system antigens. Our results suggest a strong association of alloimmunization with a cluster of HLA DR molecules sharing a particular polymorphic amino acid sequence at position 69-70 (Glu-Asp encoded by GAA-GAC nucleotide sequence) of the DR beta 1 chain (RR = 2.95, RR = 5.70 when patients were homozygous for this sequence), and a negative association with the DRB1*0301 allele (2.1% vs. 28%; RR = 0.08). Furthermore, increased frequency of a TAP2 dimorphism at position 379 was observed in immunized women against the HPA-5 antigens (RR = 4.7).
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No. Sentence Comment
80 This finding implies that the substitution of a proline for a leucine at position 33 on GP IIIa could play a role in the antigen presentation.
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ABCB2 p.Leu33Pro 8727210:80:48
status: NEW