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Protein Ontology Report - hPSEN1/var:L286P

PR:000037700 - http://purl.obolibrary.org/obo/PR_000037700
Ontology Information
PRO ID PR:000037700 Show OBO stanza / PAF
PRO name presenilin-1 sequence variant L286P (human)
Synonyms
PRO-short-label: hPSEN1/var:L286P
PRO-proteoform-std: UniProtKB:P49768-1, Leu-286, CHEBI:50342
Definition A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-286, CHEBI:50342. [Alzforum:KD, PMID:18028191, 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:000037700
hPSEN1/var:L286P
Leu-286, CHEBI:50342
associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy Alzforum:psen1-l286p
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l286p

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