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Protein Ontology Report - hPSEN2/var:Q228L

PR:000037761 - http://purl.obolibrary.org/obo/PR_000037761
Ontology Information
PRO ID PR:000037761 Show OBO stanza / PAF
PRO name presenilin-2 sequence variant Q228L (human)
Synonyms
PRO-short-label: hPSEN2/var:Q228L
PRO-proteoform-std: UniProtKB:P49810-1, Gln-228, CHEBI:30006
Definition A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Gln-228 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gln-228, CHEBI:30006. [Alzforum:KD, PMID:14769392, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036286 presenilin-2 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:000037761
hPSEN2/var:Q228L
Gln-228, CHEBI:30006
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-q228l

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