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Protein Ontology Report - hAPP/var:D694N

PR:000025565 - http://purl.obolibrary.org/obo/PR_000025565
Ontology Information
PRO ID PR:000025565 Show OBO stanza / PAF / GPI
PRO name amyloid-beta precursor protein sequence variant D694N (human)
Synonyms
PRO-short-label: EXACT: hAPP/var:D694N
PRO-proteoform-std: NARROW: UniProtKB:P05067-1, Asp-694, CHEBI:50347
Other: EXACT: Iowa APP
Definition An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-694 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-694, CHEBI:50347. [PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000025558 amyloid-beta precursor protein sequence variant (human)
Taxon NCBITaxon:9606 Homo sapiens
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:000025565
hAPP/var:D694N
Asp-694, CHEBI:50347
associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy PMID:11409420, PMID:12654973, UniProtKB_VAR:VAR_014217
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:app-d694n-iowa

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