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Protein Ontology Report - hACVR1/var:R206H

PR:000000200 - http://purl.obolibrary.org/obo/PR_000000200
Ontology Information
PRO ID PR:000000200 Show OBO stanza / PAF
PRO name activin receptor type-1 sequence variant R206H (human)
Synonyms
PRO-short-label: hACVR1/var:R206H
EXACT: activin receptor type-1 sequence variant 1 (human)
PRO-proteoform-std: UniProtKB:Q04771, Arg-206, CHEBI:29979
Definition An activin receptor type-1 (human) that has a His residue at the position equivalent to Arg-206 of the amino acid sequence represented by UniProtKB:Q04771. This variation is located within the GS-motif. UniProtKB:Q04771, Arg-206, CHEBI:29979. [PMID:8397373, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:Q04771 activin receptor type-1 (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:000000200
hACVR1/var:R206H
Arg-206, CHEBI:29979 		associated_with_disease_progression DOID:13374 fibrodysplasia ossificans progressiva PMID:8397373
located_in GO:0005887 integral component of plasma membrane PMID:8397373
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0005887 integral component of plasma membrane PR:000000200 hACVR1/var:R206H
Arg-206, CHEBI:29979
PMID:8397373

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