From Protein Structure-Function Relationships to Phenotypes of Exome Variants

Successes of protein science during the past century have provided a high level of understanding of the relationships between the protein structure and function. These achievements form a solid basis for understanding the genotype-phenotype relationships for the exome part of genome. However, filling in the gap between functional characterization of protein variant and its pathophysiological significance represents a great challenge even for in vitro characterized variants of well-known proteins. In this research topic, we would like to address this challenge by presenting the studies of genetic disorders that consider molecular mechanisms of such disorders; advantages and limitations of the cellular and animal models of hereditary diseases; factors defining symptomatic variety in individual patients with the same dysfunctional protein.

This Research Topic aims to understand pathophysiological consequences of structural and functional changes in a protein due to mutations in the protein-coding genes, that affect protein structure.

We welcome manuscripts on

- Clinical cases of genetic disorders due to corrupted splicing, deletions or substitutions of amino acids in proteins, with a special focus on molecular basis of the disorders

- Animal and cellular models of hereditary diseases, including critical reviews on the advantages and limitations of the models

- Study of molecular mechanisms of genetic disorders using patient-derived cells

- In vitro characterization of specific protein variants and their pathophysiological significance

- Genetic characterization of the mutation inheritance type and penetrance, potential links between these features and perturbations in the protein structure and function.

Authors who intend to submit their manuscript should review the section scope prior to submission.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Data Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Data Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Study Protocol
• Systematic Review
• Technology and Code

Keywords: Molecular Model of Genetic Disorder, Molecular Mechanism of Hereditary Disease, Pathogenicity of Protein Variant, Phenotype-Genotype Relationship, Rare Disease

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.