PREDICTION OF FUNCTIONAL, STRUCTURAL AND STABILITY CHANGES IN PMM2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME USING COMPUTATIONAL ANALYSIS

Objective: Nephrotic syndrome defines as a disorder with a group of symptoms like proteinuria, hypoalbuminemia, hyperlipidemia, and edema. PMM2 encodes phosphomannosemutase protein enzyme involved in the synthesis of N-glycan. Methods: Different Insilico analysis tools: SIFT, PolyPhen, PROVEAN, SNPandGO, MetaSNP, PhDSNP, MutPred, I-Mutant, STRUM, PROCHECK-Ramachandran, COACH and ConSurf, were used to check the effect of nsSNP on protein structure and function. Results: The genetic polymorphism in the PMM2 gene was retrieved from NCBI ClinVar and UniProtKB. Total 20 SNPs were predicted most significant and responsible for disease-causing and decrease protein stability. Conclusion: This study helps to discover disease-causing deleterious SNPs with different computational tools and gives information about potent SNPs.

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Computational analysis the influence of missense mutations upon protein structure and function

Proceedings of the 1st ACM workshop on Breaking frontiers of computational biology - CompBio '09 ◽

10.1145/1531780.1531783 ◽

2009 ◽

Author(s):

Isar Nassiri ◽

Bahram Goliaei

Keyword(s):

Protein Structure ◽

Computational Analysis ◽

Structure And Function ◽

Missense Mutations ◽

Protein Structure And Function ◽

And Function

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Using molecular visualization to explore protein structure and function and enhance student facility with computational tools

Biochemistry and Molecular Biology Education ◽

10.1002/bmb.21040 ◽

2017 ◽

Vol 45 (4) ◽

pp. 318-328 ◽

Cited By ~ 8

Author(s):

Cassidy R. Terrell ◽

Laura L. Listenberger

Keyword(s):

Protein Structure ◽

Structure And Function ◽

Protein Structure And Function ◽

Molecular Visualization ◽

Computational Tools ◽

And Function

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Faculty Opinions recommendation of A minimal sequence code for switching protein structure and function.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1367956.838071 ◽

2010 ◽

Author(s):

H Jane Dyson ◽

Gira Bhabha

Keyword(s):

Protein Structure ◽

Structure And Function ◽

Protein Structure And Function ◽

Sequence Code ◽

Minimal Sequence ◽

And Function

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Faculty Opinions recommendation of A minimal sequence code for switching protein structure and function.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1367956.1868054 ◽

2010 ◽

Author(s):

Nick Grishin

Keyword(s):

Protein Structure ◽

Structure And Function ◽

Protein Structure And Function ◽

Sequence Code ◽

Minimal Sequence ◽

And Function

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Faculty Opinions recommendation of Small-molecule structure correctors target abnormal protein structure and function: structure corrector rescue of apolipoprotein E4-associated neuropathology.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717959324.793462720 ◽

2012 ◽

Author(s):

John Lowe

Keyword(s):

Protein Structure ◽

Small Molecule ◽

Structure And Function ◽

Function Structure ◽

Protein Structure And Function ◽

Abnormal Protein ◽

Apolipoprotein E4 ◽

Molecule Structure ◽

And Function

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Order-disorder transitions of cytoplasmic N-termini in the mechanisms of P-type ATPases

Faraday Discussions ◽

10.1039/d0fd00040j ◽

2020 ◽

Author(s):

Khondker Rufaka Hossain ◽

Daniel Clayton ◽

Sophia C Goodchild ◽

Alison Rodger ◽

Richard James Payne ◽

...

Keyword(s):

Protein Structure ◽

Membrane Protein ◽

Structure And Function ◽

Membrane Protein Structure ◽

Protein Structure And Function ◽

Lipid Environment ◽

Membrane Pumps ◽

And Function ◽

P Type

Membrane protein structure and function are modulated via interactions with their lipid environment. This is particularly true for the integral membrane pumps, the P-type ATPases. These ATPases play vital roles...

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Analyzing protein structure and function using ancestral gene reconstruction

Current Opinion in Structural Biology ◽

10.1016/j.sbi.2010.03.005 ◽

2010 ◽

Vol 20 (3) ◽

pp. 360-366 ◽

Cited By ~ 125

Author(s):

Michael J Harms ◽

Joseph W Thornton

Keyword(s):

Protein Structure ◽

Structure And Function ◽

Protein Structure And Function ◽

Ancestral Gene ◽

And Function

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Nanoscale lipid membrane mimetics in spin-labeling and electron paramagnetic resonance spectroscopy studies of protein structure and function

Nanotechnology Reviews ◽

10.1515/ntrev-2016-0080 ◽

2017 ◽

Vol 6 (1) ◽

pp. 75-92 ◽

Cited By ~ 6

Author(s):

Elka R. Georgieva

Keyword(s):

Electron Paramagnetic Resonance ◽

Protein Structure ◽

Membrane Proteins ◽

Membrane Protein ◽

Spin Labeling ◽

Structure And Function ◽

Protein Structure And Function ◽

Paramagnetic Resonance ◽

And Function ◽

Electron Paramagnetic

AbstractCellular membranes and associated proteins play critical physiological roles in organisms from all life kingdoms. In many cases, malfunction of biological membranes triggered by changes in the lipid bilayer properties or membrane protein functional abnormalities lead to severe diseases. To understand in detail the processes that govern the life of cells and to control diseases, one of the major tasks in biological sciences is to learn how the membrane proteins function. To do so, a variety of biochemical and biophysical approaches have been used in molecular studies of membrane protein structure and function on the nanoscale. This review focuses on electron paramagnetic resonance with site-directed nitroxide spin-labeling (SDSL EPR), which is a rapidly expanding and powerful technique reporting on the local protein/spin-label dynamics and on large functionally important structural rearrangements. On the other hand, adequate to nanoscale study membrane mimetics have been developed and used in conjunction with SDSL EPR. Primarily, these mimetics include various liposomes, bicelles, and nanodiscs. This review provides a basic description of the EPR methods, continuous-wave and pulse, applied to spin-labeled proteins, and highlights several representative applications of EPR to liposome-, bicelle-, or nanodisc-reconstituted membrane proteins.

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