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Protein Ontology Report - hACVRL1/var:H314Y

PR:000000327 - http://purl.obolibrary.org/obo/PR_000000327
Ontology Information
PRO ID PR:000000327 Show OBO stanza / PAF
PRO name serine/threonine-protein kinase receptor R3 sequence variant H314Y (human)
Synonyms
PRO-short-label: hACVRL1/var:H314Y
EXACT: serine/threonine-protein kinase receptor R3 sequence variant 19 (human)
PRO-proteoform-std: UniProtKB:P37023, His-314, CHEBI:46858
Definition A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to His-314 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, His-314, CHEBI:46858. [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


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

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000327
hACVRL1/var:H314Y
His-314, CHEBI:46858
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723

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