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The-Sequence-Ontology / SO-Ontologies

Collect of SO Ontologies
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Variants resulting in a decrease or complete loss of enzymatic activity but causing an increase in pathway activity #651

Open dsonkin opened 3 weeks ago

dsonkin commented 3 weeks ago

Hello,

Some variants may result in a decrease or complete loss of enzymatic activity but cause an increase in pathway activity due to dimerization and/or feedback signaling. BRAF class 3 variants, which result in a decrease or complete loss of BRAF kinase activity and an increase in MAPK/ERK pathway activity due to increased signaling through CRAF (RAF1), are examples of such variants. Was the creation of the term to describe such variants discussed at some point in the past?

Thank you, Dmitriy

ValWood commented 6 days ago

This sounds like a phenotype term rather than a sequence ontology term