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Protein Ontology Report - hPSEN2/var:M239V

PR:000037763 - http://purl.obolibrary.org/obo/PR_000037763
Ontology Information
PRO ID PR:000037763 Show OBO stanza / PAF / GPI
PRO name presenilin-2 sequence variant M239V (human)
Synonyms
PRO-short-label: EXACT: hPSEN2/var:M239V
PRO-proteoform-std: NARROW: UniProtKB:P49810-1, Met-239, CHEBI:30015
Definition A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Met-239 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Met-239, CHEBI:30015. [Alzforum:KD, PMID:7651536, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036286 presenilin-2 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:000037763
hPSEN2/var:M239V
Met-239, CHEBI:30015
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-m239v

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