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Protein Ontology Report - hPSEN1/var:H214Y

PR:000037640 - http://purl.obolibrary.org/obo/PR_000037640
Ontology Information
PRO ID PR:000037640 Show OBO stanza / PAF
PRO name presenilin-1 sequence variant H214Y (human)
Synonyms
PRO-short-label: hPSEN1/var:H214Y
PRO-proteoform-std: UniProtKB:P49768-1, His-214, CHEBI:46858
Definition A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:46858. [Alzforum:KD, PMID:16033913, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036285 presenilin-1 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:000037640
hPSEN1/var:H214Y
His-214, CHEBI:46858
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-h214y

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