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Protein Ontology report - TGF-beta receptor type-2 sequence variant R528H (human)
PR:000000055 -
http://purl.obolibrary.org/obo/PR_000000055
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000055
PRO name
TGF-beta receptor type-2 sequence variant R528H (human)
Synonyms
PRO-Short-label
:
EXACT:
hTGFBR2/var:R528H
PRO-proteoform-std
:
EXACT:
UniProtKB:P37173
, Arg-528,
CHEBI:29979
NARROW:
UniProtKB:P37173-1
, Arg-528,
CHEBI:29979
Other
:
EXACT:
TGF-beta receptor type-2 sequence variant 14 (human)
Definition
"A TGF-beta receptor type-2 (human) that has a His residue at the position equivalent to Arg-528 of the amino acid sequence represented by
UniProtKB:P37173-1
. Example:
UniProtKB:P37173-1
, Arg-528,
CHEBI:29979
." [
PMID:15731757
, PRO:CNA, PRO:DAN]
PRO Category
organism-sequence
Parent
PR:P37173
TGF-beta receptor type-2 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_022361
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000055
hTGFBR2/var:R528H
UniProtKB:P37173, Arg-528, CHEBI:29979 | UniProtKB:P37173-1, Arg-528, CHEBI:29979 | TGF-beta receptor type-2 sequence variant 14 (human)
"A TGF-beta receptor type-2 (human) that has a His residue at the position equivalent to Arg-528 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Arg-528, CHEBI:29979." [PMID:15731757, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:15731757