Article

The Cytochrome b m.14849T>C (S35P) Variant Induces Structural and Dynamic Alterations in the Heme bL Microenvironment in Multisystem Disease

2026-02-27

Abstract excerpt

Mitochondrial Complex III dysfunction is frequently associated with pathogenic variants in the MT-CYB gene, yet the functional consequences of many missense substitutions remain unresolved because they are classified as variants of uncertain significance (VUS). One such variant, m.14849T>C (p.Ser35Pro), has been reported in patients with multisystem mitochondrial phenotypes, including septo-optic dysplasia, cardio...

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Literature Corpus work: f177ff58-d38c-5537-b189-40901afaba80
DOI: 10.64898/2026.02.27.708559

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