Protein Ontology Report - hPSEN1/var:I408T PR:000044555 - http://purl.obolibrary.org/obo/PR_000044555

Ontology Information
PRO ID	PR:000044555 Show OBO stanza / PAF
PRO name	presenilin-1 sequence variant I408T (human)
Synonyms	PRO-short-label: hPSEN1/var:I408T PRO-proteoform-std: UniProtKB:P49768-1, Ile-408, CHEBI:30013
Definition	A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-408 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-408, CHEBI:30013. [Alzforum:KD, PRO:DAN]
Comment	Requested by=Alzforum.
PRO Category	organism-sequence
Parent	PR:000036285 presenilin-1 sequence variant (human)
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	Alzforum_mut:psen1-i408t, UniProtKB_VAR:VAR_075277

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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:000044555 hPSEN1/var:I408T Ile-408, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i408t

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