Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.

Seppälä J, Bernardi RC, Haataja TJK, Hellman M, Pentikäinen OT, Schulten K, Permi P, Ylänne J, Pentikäinen U
Sci Rep 7(1):4218 (2017 Jun 26)
PMID: 28652603
doi: 10.1038/s41598-017-04441-x
Submitted to SASBDB: 2015 Sep 10
Published in SASBDB:

SASDB32 – Human Filamin A Ig-like domains 16-17 truncation (1782-1956)

Human Filamin A Ig-like domains 16-17 experimental SAS data
DAMMIN model
Sample: Human Filamin A Ig-like domains 16-17 monomer, 19 kDa Homo sapiens protein
Buffer: 20 mM Tris 50 mM NaCl 10 mM DTT, pH:
Experiment: SAXS data collected at BM29, ESRF on 2013 Sep 30
RgGuinier 1.8 nm
Dmax 6.2 nm
VolumePorod 31 nm3

SASDB42 – Human Filamin A Ig-like domains 16-17* truncation (1782-1956) L1788R patient mutation

Human Filamin A Ig-like domains 16-17* experimental SAS data
DAMMIN model
Sample: Human Filamin A Ig-like domains 16-17* monomer, 19 kDa Homo sapiens protein
Buffer: 20 mM Tris 50 mM NaCl 10 mM DTT, pH:
Experiment: SAXS data collected at BM29, ESRF on 2013 Sep 30
RgGuinier 2.4 nm
Dmax 8.3 nm
VolumePorod 37 nm3