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Protein Ontology report - TGF-beta receptor type-1 sequence variant K232E (human)
PR:000000189 -
http://purl.obolibrary.org/obo/PR_000000189
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000189
PRO name
TGF-beta receptor type-1 sequence variant K232E (human)
Synonyms
PRO-Short-label
:
EXACT:
hTGFBR1/var:K232E
PRO-proteoform-std
:
EXACT:
UniProtKB:P36897
, Lys-232,
CHEBI:29972
NARROW:
UniProtKB:P36897-1
, Lys-232,
CHEBI:29972
Other
:
EXACT:
TGF-beta receptor type-1 sequence variant 2 (human)
Definition
"A TGF-beta receptor type-1 (human) that has a Glu residue at the position equivalent to Lys-232 of the amino acid sequence represented by
UniProtKB:P36897-1
. Example:
UniProtKB:P36897-1
, Lys-232,
CHEBI:29972
." [
PMID:16928994
, PRO:CNA, PRO:DAN]
PRO Category
organism-sequence
Parent
PR:P36897
TGF-beta receptor type-1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_029481
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000189
hTGFBR1/var:K232E
Example: UniProtKB:P36897-1, Lys-232, CHEBI:29972
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:16928994