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Protein Ontology Report - hTGFBR1/var:D400G

PR:000000193 - http://purl.obolibrary.org/obo/PR_000000193
Ontology Information
PRO ID PR:000000193 Show OBO stanza / PAF / GPI
PRO name TGF-beta receptor type-1 sequence variant D400G (human)
Synonyms
PRO-short-label: EXACT: hTGFBR1/var:D400G
PRO-proteoform-std: NARROW: UniProtKB:P36897-1, Asp-400, CHEBI:29947
Other: EXACT: TGF-beta receptor type-1 sequence variant 6 (human)
Definition A TGF-beta receptor type-1 (human) that has a Gly residue at the position equivalent to Asp-400 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asp-400, CHEBI:29947. [PMID:15731757, 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     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:000000193
hTGFBR1/var:D400G
Asp-400, CHEBI:29947
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757

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