back to PRO homepage

Protein Ontology Report - hPSEN1/var:L173F

PR:000037620 - http://purl.obolibrary.org/obo/PR_000037620
Ontology Information
PRO ID PR:000037620 Show OBO stanza / PAF
PRO name presenilin-1 sequence variant L173F (human)
Synonyms
PRO-short-label: hPSEN1/var:L173F
PRO-proteoform-std: UniProtKB:P49768-1, Leu-173, CHEBI:29997
Definition A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-173 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-173, CHEBI:29997. [Alzforum:KD, PMID:19280102, PMID:22906081, 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:000037620
hPSEN1/var:L173F
Leu-173, CHEBI:29997
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l173f-gc
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l173f-gtDUPE

top