In Uniprot how do I know which variants are mutations and which are polymorphic? I am looking at P38398 (BRCA1_HUMAN) specifically.
Many thanks.
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$\begingroup$ What do you mean by "mutation"? Are you just talking about how frequent a variant is in a population? $\endgroup$– terdon ♦Commented Nov 12, 2018 at 12:50
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1 Answer
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This answer is very late but may still help others: Have a look at the UniProt index of human polymorphisms and disease mutations at https://www.uniprot.org/docs/humsavar
Please don't hesitate to contact the UniProt helpdesk if you have any additional questions.
answered Jun 11, 2019 at 15:23
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$\begingroup$ Thanks for answering! No answer is ever late here, the objetive of this site to to amass a collection of useful Q&As, so the age of a question is irrelevant as long as it could still be asked by someone else. If, as your answer seems to suggest, you are affiliated with UniProt, it would be helpful if you could mention that since it would add more weight to your answers. $\endgroup$– terdon ♦Commented Jun 11, 2019 at 18:39