Mechanism of action of non-synonymous single nucleotide variations associated with α-carbonic anhydrase II deficiency:

Sanyanga, Taremekedzwa A; Nizami, Bilal; Tastan Bishop, Özlem

Title: Mechanism of action of non-synonymous single nucleotide variations associated with α-carbonic anhydrase II deficiency:
Creator: Sanyanga, Taremekedzwa A
Creator: Nizami, Bilal
Creator: Tastan Bishop, Özlem
Date Issued: 2019
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
Format: pdf
Language: English
Relation: Molecules
Relation: 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
Relation: 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 Biotechnology

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