Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.

Emna Bouatrous, Sonia Nouira, Samia Menif, Houyem Ouragini

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Article in Molecular syndromology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 authors at 2 institutions in 1 country.

Emna BouatrousLR16IPT07, Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Sonia NouiraLR16IPT07, Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Samia MenifLR16IPT07, Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Houyem OuraginiLR16IPT07, Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Institut Pasteur de Tunis · TNUniversity of Monastir · TN

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No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: NADH-cytochrome b5 reductase deficiency due to pathogenic variants in the CYB5R3 gene causes recessive congenital methemoglobinemia (RCM) type I or type II. In type I, cyanosis from birth is the only major symptom, and the enzyme deficiency is restricted only to erythrocytes. Whereas in type II, cyanosis is associated with severe neurological manifestations, and the enzyme deficiency is generalized to all tissues. Methods: In this study, several computational methods (SIFT, Polyphen-2, PROVEAN, Mutation Assessor, Panther, Phd-SNP, SNPs&GO, SNAP2, Align, GVGD, MutPred2, I-Mutant 2.0, MUpro, Duet, ConSurf and Netsurf-2.0 tools) were used to find the most deleterious nsSNPs in the Results: Our in silico analysis suggested that out of 339 nsSNPs of the Discussion: This study highlighted the potential pathogenic nsSNPs of the

Indexed as

CYB5R3In silico analysisNon-synonymous single nucleotide polymorphismsPathogenic SNPsRecessive congenital methemoglobinemia

Identifiers

PMID37901856

DOI10.1159/000530173

PMCPMC10601824

OpenAlexW4387247362

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.