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Protein Ontology Report - hPSEN2/var:E126K

PR:000037750 - http://purl.obolibrary.org/obo/PR_000037750
Ontology Information
PRO ID PR:000037750 Show OBO stanza / PAF
PRO name presenilin-2 sequence variant E126K (human)
Synonyms
PRO-short-label: hPSEN2/var:E126K
PRO-proteoform-std: UniProtKB:P49810-1, Glu-126, CHEBI:29967
Definition A presenilin-2 sequence variant (human) that has a Lys residue at the position equivalent to Glu-126 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967. [Alzforum:KD, PMID:24844686, 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:000037750
hPSEN2/var:E126K
Glu-126, CHEBI:29967
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-e126k

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