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Protein Ontology report - presenilin-2 sequence variant T122P (human)
PR:000037748 -
http://purl.obolibrary.org/obo/PR_000037748
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000037748
PRO name
presenilin-2 sequence variant T122P (human)
Synonyms
PRO-Short-label
:
EXACT:
hPSEN2/var:T122P
PRO-proteoform-std
:
EXACT:
UniProtKB:P49810
, Thr-122,
CHEBI:50342
NARROW:
UniProtKB:P49810-1
, Thr-122,
CHEBI:50342
Definition
"A presenilin-2 sequence variant (human) that has a Pro residue at the position equivalent to Thr-122 of the amino acid sequence represented by
UniProtKB:P49810-1
. Example:
UniProtKB:P49810-1
, Thr-122,
CHEBI:50342
." [Alzforum:KD,
PMID:10631141
, PRO:DAN]
Comment
Requested by=Alzforum.
PRO Category
organism-sequence
Parent
PR:000036286
presenilin-2 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_009214
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000037748
hPSEN2/var:T122P
Example: UniProtKB:P49810-1, Thr-122, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen2-t122p