- Title
- Mechanism of action of non-synonymous single nucleotide variations associated with α-carbonic anhydrase II deficiency:
- Creator
- Sanyanga, Taremekedzwa A, Nizami, Bilal, Tastan Bishop, Özlem
- Date
- 2019
- Type
- text
- Type
- article
- Identifier
- http://hdl.handle.net/10962/162655
- Identifier
- vital:40970
- Identifier
- https://doi.org/10.3390/molecules24213987
- Description
- Human carbonic anhydrase II (CA-II) is a Zinc (Zn 2+ ) metalloenzyme responsible for maintenance of acid-base balance within the body through the reversible hydration of CO 2 to produce protons (H + ) and bicarbonate (BCT). Due to its importance, alterations to the amino acid sequence of the protein as a result of single nucleotide variations (nsSNVs) have detrimental effects on homeostasis. Six pathogenic CA-II nsSNVs, K18E, K18Q, H107Y, P236H, P236R and N252D were identified, and variant protein models calculated using homology modeling. The effect of each nsSNV was analyzed using motif analysis, molecular dynamics (MD) simulations, principal component (PCA) and dynamic residue network (DRN) analysis. Motif analysis identified 11 functionally important motifs in CA-II.
- Format
- 33 page, pdf
- Language
- English
- Relation
- Molecules, Sanyanga, T.A., Nizami, B. and Tastan Bishop, Ö., 2019. Mechanism of action of non-synonymous single nucleotide variations associated with α-carbonic anhydrase II deficiency. Molecules, 24(21), p.3987, Molecules volume 24 number 21 1 32 October 2019 1420-3049
- Rights
- Publisher
- Rights
- Use of this resource is governed by the terms and conditions of the MDPI Open Access Statement (https://www.int-res.com/journals/terms-of-use/)
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Tastan Bishop, Ozlem (Prof)
RU Research Unit in Bioinformatics (RUBi)
RU Department of Biochemistry, Microbiology and Bioinformatics
SDG 03. Good Health and Well-Being
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