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Protein Ontology report - TGF-beta receptor type-1 sequence variant D400G (human) PR:000000193 - http://purl.obolibrary.org/obo/PR_000000193        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000193      PRO name TGF-beta receptor type-1 sequence variant D400G (human)    Synonyms PRO-Short-label: EXACT: hTGFBR1/var:D400G PRO-proteoform-std: EXACT: UniProtKB:P36897, Asp-400, CHEBI:29947 NARROW: UniProtKB:P36897-1, Asp-400, CHEBI:29947 Other: EXACT: TGF-beta receptor type-1 sequence variant 6 (human)   Definition "A TGF-beta receptor type-1 (human) that has a Gly residue at the position equivalent to Asp-400 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asp-400, CHEBI:29947." [PMID:15731757, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:P36897 TGF-beta receptor type-1 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_022346 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000193 hTGFBR1/var:D400G UniProtKB:P36897, Asp-400, CHEBI:29947 | UniProtKB:P36897-1, Asp-400, CHEBI:29947 | TGF-beta receptor type-1 sequence variant 6 (human) "A TGF-beta receptor type-1 (human) that has a Gly residue at the position equivalent to Asp-400 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asp-400, CHEBI:29947." [PMID:15731757, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:0050466 Loeys-Dietz syndrome PMID:15731757