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Protein Ontology Report - hPSEN1/var:L226F

PR:000045462 - http://purl.obolibrary.org/obo/PR_000045462
Ontology Information
PRO ID PR:000045462 Show OBO stanza / PAF / GPI
PRO name presenilin-1 sequence variant L226F (human)
Synonyms
PRO-short-label: EXACT: hPSEN1/var:L226F
PRO-proteoform-std: NARROW: UniProtKB:P49768-1, Leu-226, CHEBI:29997
Definition A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-226 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-226, CHEBI:29997. [Alzforum:KD, PMID:16546171, 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


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:000045462
hPSEN1/var:L226F
Leu-226, CHEBI:29997
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l226f

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