Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R51K
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SDS

NM_006843.3:p.R51K

Associated Papers

Mechanosensitive channel engineering: A study on the mixing and matching of YnaI and MscS sensor paddles and pores.

Flegler VJ et al.

Nature Communications, 2025

40849500 (PubMed )
Supplement: 41467_2025_63253_MOESM3_ESM.pdf

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series.

Tang Z et al.

Frontiers in Neurology, 2021

The power of two: arginine 51 and arginine 239* from a neighboring subunit are essential for catalysis in α-amino-β-carboxymuconate-epsilon-semialdehyde decarboxylase.

Huo L et al.

The Journal of Biological Chemistry, 2013

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M et al.

Human Mutation, 2013

Membrane topology and essential amino acid residues of Phs1, a 3-hydroxyacyl-CoA dehydratase involved in very long-chain fatty acid elongation.

Kihara A et al.

The Journal of Biological Chemistry, 2008

Modulation of dimer stability in yeast pyrophosphatase by mutations at the subunit interface and ligand binding to the active site.

Salminen A et al.

The Journal of Biological Chemistry, 2002

Site-directed mutagenesis of human leukotriene C4 synthase.

Lam BK et al.

The Journal of Biological Chemistry, 1997

X-ray structure analysis of an engineered Fe-superoxide dismutase Gly-Ala mutant with significantly reduced stability to denaturant.

Cooper JB et al.

Febs Letters, 1996

Changing the inhibitory specificity and function of the proteinase inhibitor eglin c by site-directed mutagenesis: functional and structural investigation.

Heinz DW et al.

Biochemistry, 1992

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."