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Protein Ontology Report - hPSEN1/var:M146L

PR:000037596 - http://purl.obolibrary.org/obo/PR_000037596
Ontology Information
PRO ID PR:000037596 Show OBO stanza / PAF
PRO name presenilin-1 sequence variant M146L (human)
Synonyms
PRO-short-label: hPSEN1/var:M146L
PRO-proteoform-std: UniProtKB:P49768-1, Met-146, CHEBI:30006
Definition A presenilin-1 sequence variant (human) that has a Leu 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:30006. [Alzforum:KD, PMID:7596406, PMID:7623584, PMID:9712537, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036285 presenilin-1 sequence variant (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

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

Functional Annotation
PRO Term GO Annotation Evidence
PR:000037596
hPSEN1/var:M146L
Met-146, CHEBI:30006
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146l
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146l-acDUPE

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