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

[ppavlidis]

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]

Hi is anybody looking after this ontology?

[ppavlidis]

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.