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Molecular Mechanisms of Disease-Causing Missense Mutations

โœ Scribed by Stefl, Shannon; Nishi, Hafumi; Petukh, Marharyta; Panchenko, Anna R.; Alexov, Emil


Book ID
120771619
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
999 KB
Volume
425
Category
Article
ISSN
0022-2836

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Computational analysis of missense mutat
โœ Zhe Zhang; Shaolei Teng; Liangjiang Wang; Charles E. Schwartz; Emil Alexov ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 208 KB

The Snyder-Robinson syndrome is caused by missense mutations in the spermine sythase gene that encodes a protein (SMS) of 529 amino acids. Here we investigate, in silico, the molecular effect of three missense mutations, c.267G4A (p.G56S), c.496T4G (p.V132G), and c.550T4C (p.I150T) in SMS that were