The lymphoproliferation mutation in Fas locally unfolds the Fas death domain.
NMR studies of the lymphoproliferation mutant (V238N) of the Fas death domain indicate that helix 3 is unfolded. This local structural change abolishes binding to FADD--a protein that interacts with Fas and also contains a death domain--and causes the accumulation of autoreactive T cells.
Eberstadt
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M
Huang
B
B
Olejniczak
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ET
Fesik
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D000595:Amino Acid Sequence; D000818:Animals; D017209:Apoptosis / Q000235:genetics / Q000276:immunology; D006801:Humans; D008213:Lymphocyte Activation / Q000235:genetics*; D009682:Magnetic Resonance Spectroscopy; D051379:Mice; D019463:Mice, Inbred MRL lpr; D008969:Molecular Sequence Data; D009154:Mutation; D017510:Protein Folding; D017433:Protein Structure, Secondary; D019014:fas Receptor / Q000737:chemistry* / Q000235:genetics*
D019014:fas Receptor