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Protein Ontology Report - hPSEN2/var:L238P

PR:000044561 - http://purl.obolibrary.org/obo/PR_000044561
Ontology Information
PRO ID PR:000044561 Show OBO stanza / PAF
PRO name presenilin-2 sequence variant L238P (human)
Synonyms
PRO-short-label: hPSEN2/var:L238P
PRO-proteoform-std: UniProtKB:P49810-1, Leu-238, CHEBI:50342
Definition A presenilin-2 sequence variant (human) that has a Pro residue at the position equivalent to Leu-238 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Leu-238, CHEBI:50342. [Alzforum:KD, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036286 presenilin-2 sequence variant (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


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Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000044561
hPSEN2/var:L238P
Leu-238, CHEBI:50342
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-l238p

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