Home
|
Linked Open Data
|
Browse
|
Search
|
Statistics
|
Download
RACE-PRO
PRO tracker
Community
PRO Consortium
Publications
Documentation
Protein Ontology report - presenilin-1 sequence variant H163R (human)
PR:000037606 -
http://purl.obolibrary.org/obo/PR_000037606
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000037606
PRO name
presenilin-1 sequence variant H163R (human)
Synonyms
PRO-Short-label
:
EXACT:
hPSEN1/var:H163R
PRO-proteoform-std
:
EXACT:
UniProtKB:P49768
, His-163,
CHEBI:29952
NARROW:
UniProtKB:P49768-1
, His-163,
CHEBI:29952
Definition
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-163 of the amino acid sequence represented by
UniProtKB:P49768-1
. Example:
UniProtKB:P49768-1
, His-163,
CHEBI:29952
." [Alzforum:KD,
PMID:7596406
,
PMID:7623585
,
PMID:8634712
, 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:
Back to top
Related Cross References
Db identifiers
UniProtKB_VAR:VAR_006428
Back to top
Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000037606
hPSEN1/var:H163R
Example: UniProtKB:P49768-1, His-163, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-h163r