Frameshift PQBP-1 mutants K192Sfs*7 and R153Sfs*41 implicated in X-linked intellectual disability form stable dimers.

Rahman SK, Okazawa H, Chen YW, J Struct Biol (2019) Europe PMC

SASDET6 – Polyglutamine-binding protein 1 p.Lys192Serfs*7 (PQBP-1 XLID mutant K192Sfs*7)

Polyglutamine-binding protein 1 p.Lys192Serfs*7
MWI(0) 44 kDa
MWexpected 47 kDa
VPorod 114 nm3
log I(s) 2.89×103 2.89×102 2.89×101 2.89×100
Polyglutamine-binding protein 1 p.Lys192Serfs*7 small angle scattering data  s, nm-1
ln I(s)
Polyglutamine-binding protein 1 p.Lys192Serfs*7 Guinier plot ln 2.89×103 Rg: 3.5 nm 0 (3.5 nm)-2 s2
(sRg)2I(s)/I(0)
Polyglutamine-binding protein 1 p.Lys192Serfs*7 Kratky plot 1.104 0 √3 sRg
p(r)
Polyglutamine-binding protein 1 p.Lys192Serfs*7 pair distance distribution function Rg: 3.8 nm 0 Dmax: 13 nm

Data validation

Fits and models

log I(s)
 s, nm-1
Polyglutamine-binding protein 1 p.Lys192Serfs*7 (PQBP-1 XLID mutant K192Sfs*7) Rg histogram Rg, nm
log I(s)
 s, nm-1
Polyglutamine-binding protein 1 p.Lys192Serfs*7 DAMMIN model
Synchrotron SAXS data from solutions of Polyglutamine-binding protein 1 p.Lys192Serfs*7 in phosphate-buffered saline, pH 7.4 were collected on the EMBL X33 beam line at the DORIS III storage ring (DESY, Hamburg, Germany) using a Pilatus 2M detector at a sample-detector distance of 3 m and at a wavelength of λ = 0.124 nm (l(s) vs s, where s = 4πsinθ/λ, and 2θ is the scattering angle). Solute concentrations ranging between 0.7 and 9.2 mg/ml were measured at 10°C using an X-ray exposure time of 45 ms. The data were normalized to the intensity of the transmitted beam and radially averaged; the scattering of the solvent-blank was subtracted. The low angle data collected at lower concentration were merged with the highest concentration high angle data to yield the final composite scattering curve.

The entry displays the EOM ensemble Rg distributions and the fit to the data of the refined ensemble. The full EOM ensemble and log file describing the associated volume fractions is available for download in the full entry zip-archive.

Tags: idp X33
Polyglutamine-binding protein 1 p.Lys192Serfs*7 (PQBP1 K192Sfs*7)
Mol. type   Protein
Organism   Homo sapiens
Olig. state   Dimer
Mon. MW   23.3 kDa
 
UniProt   O60828 (1-192)
Sequence   FASTA