Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia

Haataja T, Capoulade R, Lecointe S, Hellman M, Merot J, Permi P, Pentikäinen U
Biophysical Journal (2019 Aug)

doi: 10.1016/j.bpj.2019.08.032
Submitted to SASBDB: 2019 Feb 26
Published in SASBDB:

SASDFD3 – Filamin A Ig-like domains 4-6 (FLNa4-6)

Filamin A Ig-like domains 4-6 experimental SAS data
DAMFILT model
Sample: Filamin A Ig-like domains 4-6 monomer, 32 kDa Homo sapiens protein
Buffer: 20 mM Tris, 100 mM NaCl, 1 mM DTT, pH: 8
Experiment: SAXS data collected at BM29, ESRF on 2017 Feb 10
RgGuinier 2.7 nm
Dmax 9.5 nm
VolumePorod 41 nm3

SASDFE3 – Filamin A Ig-like domains 4-6, V711D mutant (FLNa4-6 V711D) at 4 mg/ml

Filamin A Ig-like domains 4-6, V711D mutation experimental SAS data
Filamin A Ig-like domains 4-6, V711D mutation Kratky plot
Sample: Filamin A Ig-like domains 4-6, V711D mutation monomer, 32 kDa Homo sapiens protein
Buffer: 20 mM Tris, 100 mM NaCl, 1 mM DTT, pH: 8
Experiment: SAXS data collected at BM29, ESRF on 2017 Feb 10
RgGuinier 4.1 nm
Dmax 15.0 nm
VolumePorod 64 nm3

SASDFF3 – Filamin A Ig-like domains 4-6, V711D mutant (FLNa4-6 V711D) at 2 mg/ml

Filamin A Ig-like domains 4-6, V711D mutation experimental SAS data
Filamin A Ig-like domains 4-6, V711D mutation Kratky plot
Sample: Filamin A Ig-like domains 4-6, V711D mutation monomer, 32 kDa Homo sapiens protein
Buffer: 20 mM Tris, 100 mM NaCl, 1 mM DTT, pH: 8
Experiment: SAXS data collected at BM29, ESRF on 2017 Feb 10
RgGuinier 4.0 nm
Dmax 14.8 nm
VolumePorod 57 nm3

SASDFG3 – Filamin A Ig-like domains 4-6, H743P mutant (FLNa4-6 H743P) at 4 mg/ml

Filamin A Ig-like domains 4-6, H743P mutation experimental SAS data
Filamin A Ig-like domains 4-6, H743P mutation Kratky plot
Sample: Filamin A Ig-like domains 4-6, H743P mutation monomer, 31 kDa Homo sapiens protein
Buffer: 20 mM Tris, 100 mM NaCl, 1 mM DTT, pH: 8
Experiment: SAXS data collected at BM29, ESRF on 2017 Feb 10
RgGuinier 4.3 nm
Dmax 16.0 nm
VolumePorod 70 nm3

SASDFH3 – Filamin A Ig-like domains 4-6, H743P mutant (FLNa4-6 H743P) at 2 mg/ml

Filamin A Ig-like domains 4-6, H743P mutation experimental SAS data
Filamin A Ig-like domains 4-6, H743P mutation Kratky plot
Sample: Filamin A Ig-like domains 4-6, H743P mutation monomer, 31 kDa Homo sapiens protein
Buffer: 20 mM Tris, 100 mM NaCl, 1 mM DTT, pH: 8
Experiment: SAXS data collected at BM29, ESRF on 2017 Feb 10
RgGuinier 4.0 nm
Dmax 15.3 nm
VolumePorod 60 nm3