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2000
Volume 22, Issue 1
  • ISSN: 1875-6921
  • E-ISSN: 1875-6913

Abstract

Introduction

The gene is a voltage-gated calcium channel involved in regulating calcium entry into the cells. The gene is associated with various types of diseases like cancer, schizophrenia, bipolar disease, anxiety, phantom tooth pain, and diabetic peripheral neuropathy.

Aim

This study aimed to investigate the missense single nucleotide polymorphism associated with the human gene using bioinformatics tools.

Objective

The study focused on understanding the structural and functional distribution of high-risk nsSNPs of the gene using several bioinformatics tools.

Methods

Retrieval of missense SNP of gene from NCBI and Uniprot database. Recognition of deleterious nsSNPs using SIFT, Polyphen v2, PROVEAN, Panther, PhD-SNP, and SNPs & GO. Structural stability was detected with the help of I-Mutant and MUPro. GeneMANIA and STRING gave details regarding the gene-gene and protein-protein interactions. Another functional characterization was predicted using SOPMA, AlphaFold, and NetPhos 3.1.

Results and Discussion

The functional analysis identified 14 nsSNPs to be deleterious from 1824 non-synonymous missense SNP. The identified nsSNPs, namely, rs34534613, rs79891110, rs80315385, rs199473391, rs199586997, rs200935321, rs368861681, rs369421219, rs370634418, rs376872233, rs377564636, rs200325545, rs267603426, and rs372495864 were subjected to various structural and functional characterization using I-Mutant 2.0, MUPro, GeneMANIA, STRING, SOPMA, AlphaFold and NetPhos 3.1.

Conclusion

Our study recognized 14 nsSNPs to be detrimental to the structure and function of the gene. The identified nsSNPs may aid in serving as a potential therapeutic target for disease diagnosis.

© 2025 Bentham Science Publishers
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2025-10-18

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Computational Investigation of Non-Synonymous Single Nucleotide Polymorphism in the Human CACNA1C Gene
Curr. Pharm. and. Per. Med. 22, E18756921355525 (2025); https://doi.org/10.2174/0118756921355525250311040459
/content/journals/cppm/10.2174/0118756921355525250311040459
/content/journals/cppm/10.2174/0118756921355525250311040459
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  • Article Type:     Research Article
Keyword(s): CACNA1C; deleterious nsSNPs; in silico; missense SNP; polymorphism; single nucleotide polymorphism

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