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TitleMissense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
Journal, issue, pagesBiochim Biophys Acta Mol Basis Dis, Vol. 1865, Page 2257-2266, Year 2019
Publish dateJan 8, 2019 (structure data deposition date)
AuthorsRoland, B.P. / Richards, K.R. / Hrizo, S.L. / Eicher, S. / Barile, Z.J. / Chang, T.C. / Savon, G. / Bianchi, P. / Fermo, E. / Ricerca, B.M. ...Roland, B.P. / Richards, K.R. / Hrizo, S.L. / Eicher, S. / Barile, Z.J. / Chang, T.C. / Savon, G. / Bianchi, P. / Fermo, E. / Ricerca, B.M. / Tortorolo, L. / Vockley, J. / VanDemark, A.P. / Palladino, M.J.
External linksBiochim Biophys Acta Mol Basis Dis / PubMed:31075491
MethodsX-ray diffraction
Resolution2.199 Å
Structure data

PDB-6nlh:
Structure of human triose phosphate isomerase R189A
Method: X-RAY DIFFRACTION / Resolution: 2.199 Å

Chemicals

ChemComp-NA:
Unknown entry

ChemComp-BR:
BROMIDE ION

ChemComp-PO4:
PHOSPHATE ION

ChemComp-HOH:
WATER

Source
  • homo sapiens (human)
KeywordsISOMERASE

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