Protein Ontology Report - hPSEN2/var:S175C PR:000037759 - http://purl.obolibrary.org/obo/PR_000037759

Ontology Information
PRO ID	PR:000037759 Show OBO stanza / PAF / GPI
PRO name	presenilin-2 sequence variant S175C (human)
Synonyms	PRO-short-label: EXACT: hPSEN2/var:S175C PRO-proteoform-std: NARROW: UniProtKB:P49810-1, Ser-175, CHEBI:29950
Definition	A presenilin-2 sequence variant (human) that has a Cys residue at the position equivalent to Ser-175 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ser-175, CHEBI:29950. [Alzforum:KD, PMID:20164579, 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

Related Cross References
DB identifiers	Alzforum_mut:psen2-s175c

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

Functional Annotation PRO Centric View GO Centric View
PRO Term GO Annotation Evidence PR:000037759 hPSEN2/var:S175C Ser-175, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-s175c

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