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Protein Ontology Report - hTGFBR1/var:S241L

PR:000000190 - http://purl.obolibrary.org/obo/PR_000000190
Ontology Information
PRO ID PR:000000190 Show OBO stanza / PAF
PRO name TGF-beta receptor type-1 sequence variant S241L (human)
Synonyms
PRO-short-label: hTGFBR1/var:S241L
EXACT: TGF-beta receptor type-1 sequence variant 3 (human)
PRO-proteoform-std: UniProtKB:P36897-1, Ser-241, CHEBI:30006
Definition A TGF-beta receptor type-1 (human) that has a Leu residue at the position equivalent to Ser-241 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Ser-241, CHEBI:30006. [PMID:16596670, 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:000000190
hTGFBR1/var:S241L
Ser-241, CHEBI:30006
associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16596670, PMID:16791849

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