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Protein Ontology report - activin receptor type-1-like sequence variant S333I (human) PR:000000329 - http://purl.obolibrary.org/obo/PR_000000329        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000329      PRO name activin receptor type-1-like sequence variant S333I (human)    Synonyms PRO-Short-label: EXACT: hACVRL1/var:S333I PRO-proteoform-std: EXACT: UniProtKB:P37023, Ser-333, CHEBI:30009 Other: EXACT: activin receptor type-1-like sequence variant 20 (human)   Definition "An activin receptor type-1-like (human) that has an Ile residue at the position equivalent to Ser-333 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ser-333, CHEBI:30009." [PMID:10767348, PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:P37023 activin receptor type-1-like (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_006210 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000329 hACVRL1/var:S333I UniProtKB:P37023, Ser-333, CHEBI:30009 associated_with_disease_progression DO:1270 hereditary hemorrhagic telangiectasia PMID:10767348; PMID:14684682; PMID:9245985 enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682 located_in GO:0005783 endoplasmic reticulum PMID:14684682