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Protein Ontology report - microtubule-associated protein tau sequence variant G272V (human)
PR:000037528 -
http://purl.obolibrary.org/obo/PR_000037528
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000037528
PRO name
microtubule-associated protein tau sequence variant G272V (human)
Synonyms
PRO-Short-label
:
EXACT:
hMAPT/var:G272V
PRO-proteoform-std
:
EXACT:
UniProtKB:P10636
, Gly-589,
CHEBI:30015
NARROW:
UniProtKB:P10636-1
, Gly-589,
CHEBI:30015
|
UniProtKB:P10636-8
, Gly-272,
CHEBI:30015
Definition
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Gly-272 of the amino acid sequence represented by
UniProtKB:P10636-8
(Tau-F; aka Gly-589 in PNS-Tau). Example:
UniProtKB:P10636-8
, Gly-272,
CHEBI:30015
." [Alzforum:KD,
PMID:9641683
,
PMID:9811325
, PRO:DAN]
Comment
Requested by=Alzforum. Note: The position of variation given for
UniProtKB_VAR:VAR_010345
is with respect to PNS-Tau numbering.
PRO Category
organism-sequence
Parent
PR:000028708
microtubule-associated protein tau 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_010345
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000037528
hMAPT/var:G272V
UniProtKB:P10636, Gly-589, CHEBI:30015 | UniProtKB:P10636-1, Gly-589, CHEBI:30015 | UniProtKB:P10636-8, Gly-272, CHEBI:30015
"A microtubule-associated protein tau sequence variant (human) that has a Val residue at the position equivalent to Gly-272 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Gly-589 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-272, CHEBI:30015." [Alzforum:KD, PMID:9641683, PMID:9811325, PRO:DAN]
associated_with_disease_progression
DO:9255
frontotemporal dementia
PMID:9641683
;
PMID:9973279
; UniProtKB_VAR:VAR_010345