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Protein Ontology Report - hACVRL1/var:R374W

PR:000000334 - http://purl.obolibrary.org/obo/PR_000000334
Ontology Information
PRO ID PR:000000334 Show OBO stanza / PAF / GPI
PRO name serine/threonine-protein kinase receptor R3 sequence variant R374W (human)
Synonyms
PRO-short-label: EXACT: hACVRL1/var:R374W
PRO-proteoform-std: EXACT: UniProtKB:P37023, Arg-374, CHEBI:29954
Other: EXACT: serine/threonine-protein kinase receptor R3 sequence variant 25 (human)
Definition A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:29954. [PMID:11170071, PMID:14684682, PMID:15712270, PMID:9245985, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P37023 serine/threonine-protein kinase receptor R3 (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:000000334
hACVRL1/var:R374W
Arg-374, CHEBI:29954
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:11170071, PMID:14684682, PMID:15712270, PMID:9245985

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