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Protein Ontology Report - hPSEN1/var:V94M

PR:000037562 - http://purl.obolibrary.org/obo/PR_000037562
Ontology Information
PRO ID PR:000037562 Show OBO stanza / PAF
PRO name presenilin-1 sequence variant V94M (human)
Synonyms
PRO-short-label: hPSEN1/var:V94M
PRO-proteoform-std: UniProtKB:P49768-1, Val-94, CHEBI:16044
Definition A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Val-94 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-94, CHEBI:16044. [Alzforum:KD, PMID:11568920, 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:000037562
hPSEN1/var:V94M
Val-94, CHEBI:16044
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v94m

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