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Protein Ontology Report - hTGFBR1/var:N267H

PR:000000191 - http://purl.obolibrary.org/obo/PR_000000191
Ontology Information
PRO ID PR:000000191 Show OBO stanza / PAF
PRO name TGF-beta receptor type-1 sequence variant N267H (human)
Synonyms
PRO-short-label: hTGFBR1/var:N267H
EXACT: TGF-beta receptor type-1 sequence variant 4 (human)
PRO-proteoform-std: UniProtKB:P36897-1, Asn-267, CHEBI:29979
Definition A TGF-beta receptor type-1 (human) that has a His residue at the position equivalent to Asn-267 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asn-267, CHEBI:29979. [PMID:16791849, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P36897 TGF-beta receptor type-1 (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000191
hTGFBR1/var:N267H
Asn-267, CHEBI:29979
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16791849

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