Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia.

Haataja TJK, Capoulade R, Lecointe S, Hellman M, Merot J, Permi P, Pentikäinen U
Biophys J 117(8):1467-1475 (2019 Oct 15)

PMID: 31542223 doi: 10.1016/j.bpj.2019.08.032

Submitted to SASBDB: 2019 Feb 26 Published in SASBDB: 2019 Sep 16

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