Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.
CYB5R3
In silico analysis
Non-synonymous single nucleotide polymorphisms
Pathogenic SNPs
Recessive congenital methemoglobinemia
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
03
11
2022
accepted:
10
03
2023
pmc-release:
01
04
2024
medline:
30
10
2023
pubmed:
30
10
2023
entrez:
30
10
2023
Statut:
ppublish
Résumé
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. 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 Our in silico analysis suggested that out of 339 nsSNPs of the This study highlighted the potential pathogenic nsSNPs of the
Identifiants
pubmed: 37901856
doi: 10.1159/000530173
pii: 530173
pmc: PMC10601824
doi:
Types de publication
Journal Article
Langues
eng
Pagination
375-393Informations de copyright
© 2023 S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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