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Protein Ontology Report - hACVRL1/var:R411Q

PR:000000344 - http://purl.obolibrary.org/obo/PR_000000344
Ontology Information
PRO ID PR:000000344 Show OBO stanza / PAF
PRO name serine/threonine-protein kinase receptor R3 sequence variant R411Q (human)
Synonyms
PRO-short-label: hACVRL1/var:R411Q
EXACT: serine/threonine-protein kinase receptor R3 sequence variant 34 (human)
PRO-proteoform-std: UniProtKB:P37023, Arg-411, CHEBI:30011
Definition A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:30011. [PMID:14684682, PMID:15024723, PMID:8640225, 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:000000344
hACVRL1/var:R411Q
Arg-411, CHEBI:30011 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:14684682, PMID:15024723, PMID:8640225
capable_of NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0005783 endoplasmic reticulum PR:000000344 hACVRL1/var:R411Q
Arg-411, CHEBI:30011
PMID:14684682

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