Interpreting the molecular mechanisms of disease variants in human transmembrane proteins
Johanna K. S. Tiemann, Henrike Zschach, Kresten Lindorff‐Larsen, Amelie Stein
Topics & Concepts
BiologyMissense mutationTransmembrane proteinProteomeMembrane proteinHuman proteome projectComputational biologyTransmembrane domainFunction (biology)GeneticsPopulationMutationProteomicsGeneMembraneReceptorSociologyDemographyRNA and protein synthesis mechanismsProtein Structure and DynamicsGenomics and Phylogenetic Studies