Protein Ontology Report - hPSEN1/var:M146I PR:000037597 - http://purl.obolibrary.org/obo/PR_000037597

Ontology Information
PRO ID	PR:000037597 Show OBO stanza / PAF
PRO name	presenilin-1 sequence variant M146I (human)
Synonyms	PRO-short-label: hPSEN1/var:M146I PRO-proteoform-std: UniProtKB:P49768-1, Met-146, CHEBI:30009
Definition	A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30009. [Alzforum:KD, PMID:11524469, PMID:9007311, PMID:9544835, 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-m146i-ga, Alzforum_mut:psen1-m146i-gc, Alzforum_mut:psen1-m146i-gt, UniProtKB_VAR:VAR_006425

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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:000037597 hPSEN1/var:M146I Met-146, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146i-gcDUPE associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146i-ga associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146i-gtDUPE

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