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Protein Ontology Report - hACVRL1/var:N96D

PR:000000358 - http://purl.obolibrary.org/obo/PR_000000358
Ontology Information
PRO ID PR:000000358 Show OBO stanza / PAF
PRO name serine/threonine-protein kinase receptor R3 sequence variant N96D (human)
Synonyms
PRO-short-label: hACVRL1/var:N96D
EXACT: serine/threonine-protein kinase receptor R3 sequence variant 7 (human)
PRO-proteoform-std: UniProtKB:P37023, Asn-96, CHEBI:29958
Definition A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asn-96, CHEBI:29958. [PMID:10694922, 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:000000358
hACVRL1/var:N96D
Asn-96, CHEBI:29958
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10694922

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