Protein Ontology Report - hPSEN1/var:R278I PR:000037687 - http://purl.obolibrary.org/obo/PR_000037687

Ontology Information
PRO ID	PR:000037687 Show OBO stanza / PAF / GPI
PRO name	presenilin-1 sequence variant R278I (human)
Synonyms	PRO-short-label: EXACT: hPSEN1/var:R278I PRO-proteoform-std: NARROW: UniProtKB:P49768-1, Arg-278, CHEBI:30009
Definition	A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:30009. [Alzforum:KD, PMID:15534260, PRO:DAN]
Comment	Requested by=Alzforum.
PRO Category	organism-sequence
Parent	PR:000036285 presenilin-1 sequence variant (human)
Taxon	NCBITaxon:9606 Homo sapiens
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	Alzforum_mut:psen1-r278i

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

Functional Annotation PRO Centric View GO Centric View
PRO Term GO Annotation Evidence PR:000037687 hPSEN1/var:R278I Arg-278, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r278i

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