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Protein Ontology Report - hPSEN2/var:N141I

PR:000037753 - http://purl.obolibrary.org/obo/PR_000037753
Ontology Information
PRO ID PR:000037753 Show OBO stanza / PAF
PRO name presenilin-2 sequence variant N141I (human)
Synonyms
PRO-short-label: hPSEN2/var:N141I
EXACT: Volga German PSEN2
PRO-proteoform-std: UniProtKB:P49810-1, Asn-141, CHEBI:30009
Definition A presenilin-2 sequence variant (human) that has an Ile residue at the position equivalent to Asn-141 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Asn-141, CHEBI:30009. [Alzforum:KD, PMID:7638622, PMID:7651536, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036286 presenilin-2 sequence variant (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


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Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000037753
hPSEN2/var:N141I
Asn-141, CHEBI:30009
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-n141i-volga-german

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