Structural Analysis of Pathogenic Mutations Targeting Glu427 of ALDH7A1, the Hot Spot Residue of Pyridoxine-Dependent Epilepsy.

Laciak AR, Korasick DA, Gates KS, Tanner JJ
J Inherit Metab Dis (2019 Oct 25)

PMID: 31652343 doi: 10.1002/jimd.12184

Submitted to SASBDB: 2019 Aug 12 Published in SASBDB: 2019 Oct 30

SASDGH4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 at 1.2 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase tetramer, 222 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.8 nm Dmax 11.5 nm VolumePorod 350 nm3

SASDGJ4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 at 2.3 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase tetramer, 222 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.8 nm Dmax 10.7 nm VolumePorod 326 nm3

SASDGK4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 at 4.7 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase tetramer, 222 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.8 nm Dmax 10.7 nm VolumePorod 315 nm3

SASDGL4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399Q at 1.1 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase E399Q, 56 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.7 nm Dmax 10.3 nm VolumePorod 237 nm3

SASDGM4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399Q at 2.1 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase E399Q, 56 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.8 nm Dmax 10.8 nm VolumePorod 238 nm3

SASDGN4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399Q at 4.3 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase E399Q, 56 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.8 nm Dmax 10.6 nm VolumePorod 255 nm3

SASDGP4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399D at 1.4 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase, 56 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.7 nm Dmax 11.3 nm VolumePorod 256 nm3

SASDGQ4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399D at 2.9 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase, 56 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.8 nm Dmax 11.4 nm VolumePorod 260 nm3

SASDGR4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399D at 5.7 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase E399D, 56 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.9 nm Dmax 10.6 nm VolumePorod 272 nm3

SASDGS4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399G at 1.6 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase E399G, 55 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.8 nm Dmax 11.3 nm VolumePorod 290 nm3

SASDGT4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399G at 3.2 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase E399G, 55 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.7 nm Dmax 10.6 nm VolumePorod 250 nm3

SASDGU4 – Human alpha-aminoadipic semialdehyde dehydrogenase (ALDH)7A1 E399G at 6.5 mg/mL Sample: Alpha-aminoadipic semialdehyde dehydrogenase E399G, 55 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 mM NaCl, 1 mM DTT, 10 mM NAD, 2% (v/v) glycerol, pH: 8 Experiment: SAXS data collected at 12.3.1 (SIBYLS), Advanced Light Source (ALS) on 2019 May 1 RgGuinier 3.8 nm Dmax 10.0 nm VolumePorod 270 nm3