Frameshift PQBP-1 mutants K192S^fs*7 and R153S^fs*41 implicated in X-linked intellectual disability form stable dimers.

Rahman SK, Okazawa H, Chen YW
J Struct Biol (2019 Apr 2)

PMID: 30951824 doi: 10.1016/j.jsb.2019.04.003

Submitted to SASBDB: 2018 Oct 23 Published in SASBDB: 2019 Apr 8

SASDET6 – Polyglutamine-binding protein 1 p.Lys192Serfs*7 (PQBP-1 XLID mutant K192Sfs*7) Sample: Polyglutamine-binding protein 1 p.Lys192Serfs*7 dimer, 47 kDa Homo sapiens protein Buffer: Phosphate-buffered saline, pH: 7.4 Experiment: SAXS data collected at EMBL X33, DORIS III, DESY on 2013 Feb 15 RgGuinier 3.5 nm Dmax 13.0 nm VolumePorod 114 nm3

SASDEU6 – Polyglutamine-binding protein 1 p.Arg153Serfs*41 (PQBP-1 XLID mutant R153Sfs*41) Sample: Polyglutamine-binding protein 1 p.Arg153Serfs*41 dimer, 44 kDa Homo sapiens protein Buffer: Phosphate-buffered saline, pH: 7.4 Experiment: SAXS data collected at EMBL X33, DORIS III, DESY on 2013 Feb 15 RgGuinier 3.6 nm Dmax 13.0 nm VolumePorod 100 nm3