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TitleHereditary systemic amyloidosis due to Asp76Asn variant beta-2-microglobulin.
Journal, issue, pagesN. Engl. J. Med., Vol. 366, Page 2276-2283, Year 2012
Publish dateJul 3, 2012 (structure data deposition date)
AuthorsValleix, S. / Gillmore, J.D. / Bridoux, F. / Mangione, P.P. / Dogan, A. / Nedelec, B. / Boimard, M. / Touchard, G. / Goujon, J.M. / Lacombe, C. ...Valleix, S. / Gillmore, J.D. / Bridoux, F. / Mangione, P.P. / Dogan, A. / Nedelec, B. / Boimard, M. / Touchard, G. / Goujon, J.M. / Lacombe, C. / Lozeron, P. / Adams, D. / Lacroix, C. / Maisonobe, T. / Plante-Bordeneuve, V. / Vrana, J.A. / Theis, J.D. / Giorgetti, S. / Porcari, R. / Ricagno, S. / Bolognesi, M. / Stoppini, M. / Delpech, M. / Pepys, M.B. / Hawkins, P.N. / Bellotti, V.
External linksN. Engl. J. Med. / PubMed:22693999
MethodsX-ray diffraction
Resolution1.4 Å
Structure data

PDB-4fxl:
Crystal structure of the D76N Beta-2 Microglobulin mutant
Method: X-RAY DIFFRACTION / Resolution: 1.4 Å

Chemicals

ChemComp-NA:
Unknown entry

ChemComp-ACT:
ACETATE ION

ChemComp-PEG:
DI(HYDROXYETHYL)ETHER

ChemComp-HOH:
WATER

Source
  • homo sapiens (human)
KeywordsIMMUNE SYSTEM / immunoglobin / beta-sandwitch / amyloidosis / pathologic mutation / genetic disease / MHC class I

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