Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person Hot spot mutations in adenosine deaminase deficiency

Class:IdLiteratureReference:9734724
_displayNameHot spot mutations in adenosine deaminase deficiency
_timestamp2021-06-18 17:41:57
author[Person:5357579] Hirschhorn, Rochelle
[Person:5357597] Tzall, Stephanie
[Person:9734707] Ellenbogen, Amy
created[InstanceEdit:9734725] D'Eustachio, Peter, 2021-06-18
journalProc Natl Acad Sci U S A
pages6171-5
pubMedIdentifier2166947
titleHot spot mutations in adenosine deaminase deficiency
volume87
year1990
(literatureReference)[EntityWithAccessionedSequence:9734736] ADA A215T [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9734747] ADA R211C [cytosol] [Homo sapiens]
[CatalystActivityReference:9734742] deaminase activity of ADA mutants [cytosol] Hot spot mutations in adenosine deaminase deficiency
[Pathway:9734735] Defective ADA disrupts (deoxy)adenosine deamination [Homo sapiens]
[FailedReaction:9734745] Defective ADA does not deaminate (deoxy)adenosine [Homo sapiens]
[Change default viewing format]
No pathways have been reviewed or authored by Hot spot mutations in adenosine deaminase deficiency (9734724)