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Protein Ontology report - microtubule-associated protein tau sequence variant N279K (human)
PR:000037530 -
http://purl.obolibrary.org/obo/PR_000037530
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000037530
PRO name
microtubule-associated protein tau sequence variant N279K (human)
Synonyms
PRO-Short-label
:
EXACT:
hMAPT/var:N279K
PRO-proteoform-std
:
EXACT:
UniProtKB:P10636
, Asn-596,
CHEBI:29967
NARROW:
UniProtKB:P10636-1
, Asn-596,
CHEBI:29967
|
UniProtKB:P10636-8
, Asn-279,
CHEBI:29967
Definition
"A microtubule-associated protein tau sequence variant (human) that has a Lys residue at the position equivalent to Asn-279 of the amino acid sequence represented by
UniProtKB:P10636-8
(Tau-F; aka Asn-596 in PNS-Tau). Example:
UniProtKB:P10636-8
, Asn-279,
CHEBI:29967
." [Alzforum:KD,
PMID:1416801
, PRO:DAN]
Comment
Requested by=Alzforum. Note: The position of variation given for
UniProtKB_VAR:VAR_010346
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_010346
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000037530
hMAPT/var:N279K
UniProtKB:P10636, Asn-596, CHEBI:29967 | UniProtKB:P10636-1, Asn-596, CHEBI:29967 | UniProtKB:P10636-8, Asn-279, CHEBI:29967
"A microtubule-associated protein tau sequence variant (human) that has a Lys residue at the position equivalent to Asn-279 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Asn-596 in PNS-Tau). Example: UniProtKB:P10636-8, Asn-279, CHEBI:29967." [Alzforum:KD, PMID:1416801, PRO:DAN]
associated_with_disease_progression
DO:9255
frontotemporal dementia
PMID:10412802
;
PMID:10489057
;
PMID:10802785
;
PMID:12473774
;
PMID:9789048
; UniProtKB_VAR:VAR_010346