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

Abstract

Background/Introduction

The Calcitonin receptor () gene encodes a protein essential for bone metabolism, playing a key role in inhibiting bone resorption and promoting renal calcium excretion. Polymorphisms in have been associated with differences in bone mineral density, osteoporosis, and an increased risk of calcium stone urolithiasis.

Aim

This study aimed to investigate the non-synonymous SNPs of human genes.

Objective

This study was conducted to analyse the structural and functional impact of high-risk non-synonymous single nucleotide polymorphisms (nsSNPs) in the gene using bioinformatics tools.

Methods

We retrieved nsSNPs from the NCBI and Uniprot databases and assessed their deleterious potential using SIFT, PolyPhen v2, PROVEAN, PANTHER, PhD-SNP, and SNPs and GO. Gene-gene interactions were examined with GeneMANIA, while protein-protein interactions were analyzed STRING. Structural and functional predictions were performed using I-Mutant, MUPro, ConSurf, SOPMA, NetSurf 2.0, AlphaFold, and NetPhos 3.1.

Results and Discussion

Our analysis found 17 deleterious nsSNPs (rs972946, rs138829125, rs146344939, rs148707949, rs149570603, rs149628324, rs200643258, rs200900623, rs201985045, rs267601640, rs368981699, rs369253212, rs369926913, rs371453754, rs374929068, rs375143115, rs375417465) that destabilize the protein. ConSurf revealed that 9 of these high-risk nsSNPs are located in conserved regions, with the variants S129Y, R321Q, D101Y, D77V, L176F, P122S, N312S, M187T, and W406R being identified as highly conserved. NetsurfP-2.0 analysis indicated that some nsSNPs are exposed while others are buried, and phosphorylation analysis highlighted variations in threonine and tyrosine residues.

Conclusion

These findings indicate that the identified nsSNPs may substantially affect the functionality of and could potentially be used as biomarkers for disease diagnosis and targets for therapy.

© 2025 Bentham Science Publishers
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2025-09-25

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In Silico Prediction of Non- synonymous SNPs in the Human CALCR Gene
Curr. Pharm. and. Per. Med. 22, E18756921355047 (2025); https://doi.org/10.2174/0118756921355047250118115852
/content/journals/cppm/10.2174/0118756921355047250118115852
/content/journals/cppm/10.2174/0118756921355047250118115852
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  • Article Type:     Research Article
Keyword(s): CALCR; GeneMANIA; in silico; non-synonymous; phosphorylation analysis; SNP

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