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Protein Ontology Report - hPSEN2/var:V214L

PR:000037760 - http://purl.obolibrary.org/obo/PR_000037760
Ontology Information
PRO ID PR:000037760 Show OBO stanza / PAF
PRO name presenilin-2 sequence variant V214L (human)
Synonyms
PRO-short-label: hPSEN2/var:V214L
PRO-proteoform-std: UniProtKB:P49810-1, Val-214, CHEBI:30006
Definition A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Val-214 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-214, CHEBI:30006. [Alzforum:KD, PMID:24885952, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036286 presenilin-2 sequence variant (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

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

Functional Annotation
PRO Term GO Annotation Evidence
PR:000037760
hPSEN2/var:V214L
Val-214, CHEBI:30006
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-v214l

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