Sign in to use this feature.

Years

Between: -

Subjects

remove_circle_outline
remove_circle_outline
remove_circle_outline

Journals

Article Types

Countries / Regions

Search Results (1)

Search Parameters:
Keywords = carbonic anhydrase II deficiency syndrome (CADS)

Order results
Result details
Results per page
Select all
Export citation of selected articles as:
11 pages, 482 KB  
Article
Impact of the 237th Residue on the Folding of Human Carbonic Anhydrase II
by Ming-Jie Wu, Yan Jiang and Yong-Bin Yan
Int. J. Mol. Sci. 2011, 12(5), 2797-2807; https://doi.org/10.3390/ijms12052797 - 28 Apr 2011
Cited by 7 | Viewed by 9534
Abstract
The deficiency of human carbonic anhydrase II (HCAII) has been recognized to be associated with a disease called CAII deficiency syndrome (CADS). Among the many mutations, the P237H mutation has been characterized to lead to a significant decrease in the activity of the [...] Read more.
The deficiency of human carbonic anhydrase II (HCAII) has been recognized to be associated with a disease called CAII deficiency syndrome (CADS). Among the many mutations, the P237H mutation has been characterized to lead to a significant decrease in the activity of the enzyme and in the Gibbs free energy of folding. However, sequence alignment indicated that the 237th residue of CAII is not fully conserved across all species. The FoldX theoretical calculations suggested that this residue did not significantly contribute to the overall folding of HCAII, since all mutants had small ΔΔG values (around 1 kcal/mol). The experimental determination indicated that at least three mutations affect HCAII folding significantly and the P237H mutation was the most deleterious one, suggesting that Pro237 was important to HCAII folding. The discrepancy between theoretical and experimental results suggested that caution should be taken when using the prediction methods to evaluate the details of disease-related mutations. Full article
(This article belongs to the Special Issue Protein Folding 2011)
Show Figures

Back to TopTop