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Protein Ontology Report - hPSEN1/var:L424V

PR:000037729 - http://purl.obolibrary.org/obo/PR_000037729
Ontology Information
PRO ID PR:000037729 Show OBO stanza / PAF
PRO name presenilin-1 sequence variant L424V (human)
Synonyms
PRO-short-label: hPSEN1/var:L424V
PRO-proteoform-std: UniProtKB:P49768-1, Leu-424, CHEBI:30015
Definition A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:30015. [Alzforum:KD, PMID:19001354, 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:000037729
hPSEN1/var:L424V
Leu-424, CHEBI:30015
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l424v

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