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Protein Ontology Report - hPSEN1/var:L174M

PR:000037622 - http://purl.obolibrary.org/obo/PR_000037622
Ontology Information
PRO ID PR:000037622 Show OBO stanza / PAF
PRO name presenilin-1 sequence variant L174M (human)
Synonyms
PRO-short-label: hPSEN1/var:L174M
PRO-proteoform-std: UniProtKB:P49768-1, Leu-174, CHEBI:16044
Definition A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:16044. [Alzforum:KD, PMID:12484344, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036285 presenilin-1 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:000037622
hPSEN1/var:L174M
Leu-174, CHEBI:16044
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l174m

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