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Protein Ontology Report - hACVRL1/var:GA48/49EP

PR:000000355 - http://purl.obolibrary.org/obo/PR_000000355
Ontology Information
PRO ID PR:000000355 Show OBO stanza / PAF / GPI
PRO name serine/threonine-protein kinase receptor R3 sequence variant GA48/49EP (human)
Synonyms
PRO-short-label: EXACT: hACVRL1/var:GA48/49EP
PRO-proteoform-std: EXACT: UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217
Other: EXACT: serine/threonine-protein kinase receptor R3 sequence variant 44 (human)
Definition A serine/threonine-protein kinase receptor R3 (human) that has Glu and Pro residues at positions equivalent to Gly-48 and Ala-49 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29972, Ala-49, CHEBI:46217. [PMID:10767348, 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:000000355
hACVRL1/var:GA48/49EP
Gly-48, CHEBI:29972|Ala-49, CHEBI:46217
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026784

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