Protein Ontology Report - hAPP/var:V717I PR:000025574 - http://purl.obolibrary.org/obo/PR_000025574

Ontology Information
PRO ID	PR:000025574 Show OBO stanza / PAF
PRO name	amyloid-beta precursor protein sequence variant V717I (human)
Synonyms	PRO-short-label: hAPP/var:V717I EXACT: London APP PRO-proteoform-std: UniProtKB:P05067-1, Val-717, CHEBI:30009
Definition	An amyloid-beta precursor protein sequence variant (human) that has an Ile residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:30009. [PRO:DAN]
Comment	Requested by=Alzforum.
PRO Category	organism-sequence
Parent	PR:000025558 amyloid-beta precursor protein sequence variant (human)
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	Alzforum_mut:app-v717i-london, UniProtKB_VAR:VAR_000021

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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:000025574 hAPP/var:V717I Val-717, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease PMID:10631141, PMID:1671712, PMID:1678058, PMID:1908231, PMID:8267572, PMID:8476439, PMID:8577393, UniProtKB_VAR:VAR_000021

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