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Protein Ontology report - presenilin-1 sequence variant P436Q (human)
PR:000037737 -
http://purl.obolibrary.org/obo/PR_000037737
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000037737
PRO name
presenilin-1 sequence variant P436Q (human)
Synonyms
PRO-Short-label
:
EXACT:
hPSEN1/var:P436Q
PRO-proteoform-std
:
EXACT:
UniProtKB:P49768
, Pro-436,
CHEBI:30011
NARROW:
UniProtKB:P49768-1
, Pro-436,
CHEBI:30011
Definition
"A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Pro-436 of the amino acid sequence represented by
UniProtKB:P49768-1
. Example:
UniProtKB:P49768-1
, Pro-436,
CHEBI:30011
." [Alzforum:KD,
PMID:9831473
, PRO:DAN]
Comment
Requested by=Alzforum.
PRO Category
organism-sequence
Parent
PR:000036285
presenilin-1 sequence variant (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_006460
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000037737
hPSEN1/var:P436Q
Example: UniProtKB:P49768-1, Pro-436, CHEBI:30011
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p436q