mutation branch

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It looks like there are two problems here.

First the definition of MI:0118 states:

> A NATURAL change in a sequence or structure in comparison to a reference entity > due toa insertion, deletion or substitution event.

It seems like "NATURAL" limits applicability of the term only to mutations encountered in nature so that sequence changes introduced experimentally (eg to identify interface residues; to identify catalytic residues, etc) cannot be annotated as mutations ? Shouldn't "natural" be removed If the term is to be used also in such cases ?

Second, variant term (MI:1241) is placed as both a sibling and a child of mutation. The latter formally means every variant is a mutation as that's the meaning of "is_a" relationship. Effectively, it means the sibling branch is misleading as it is not possible to use variant term (or any of its children) without saying it is also a mutation. To fix this problem variant branch should be retained in only one place - either as mutation sibling (to make mutation and variant terms independent) or as its child (to make every variant a mutation).
Keeping both branches in place only increases the clutter...

Reported by: lukasz99

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• status: open --> closed
• Group: -->

Original comment by: orchard

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Done

Original comment by: orchard