back to PRO homepage

Protein Ontology Report - hACVRL1/var:R479L

PR:000000351 - http://purl.obolibrary.org/obo/PR_000000351
Ontology Information
PRO ID PR:000000351 Show OBO stanza / PAF
PRO name serine/threonine-protein kinase receptor R3 sequence variant R479L (human)
Synonyms
PRO-short-label: hACVRL1/var:R479L
EXACT: serine/threonine-protein kinase receptor R3 sequence variant 40 (human)
PRO-proteoform-std: UniProtKB:P37023, Arg-479, CHEBI:30006
Definition A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Arg-479 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-479, CHEBI:30006. [PMID:15024723, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P37023 serine/threonine-protein kinase receptor R3 (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:000000351
hACVRL1/var:R479L
Arg-479, CHEBI:30006
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723

top