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Add "constitutively activating variant" as a subclass of "gain_of_function_variant" #625

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ppavlidis opened this issue Sep 5, 2023 · 2 comments

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@ppavlidis
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What is this request referring to?
Constitutively activating variant

What is the name you would like SO to give the term?
constitutively_activating_variant

What is the definition that you would like for this term?
A variant rendering the activity of the gene product (i.e. adoption of an active protein confirmation) independent of the need for activation such as ligand binding.

Synonyms

Parent Term
gain_of_function_variant SO:0002053

Relevant Publications
I don't know, this is a well known concept. Here are a couple of reviews that discuss this in the context of G-protein-coupled receptors.

https://pubmed.ncbi.nlm.nih.gov/12217490/
https://pubmed.ncbi.nlm.nih.gov/1238206

@ppavlidis
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Hi is anybody looking after this ontology?

@ppavlidis
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No chance of getting any action on this? I see newer requests are being assigned, if this request is being denied please let me know, I appreciate it.

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