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Protein Ontology report - TGF-beta receptor type-1 sequence variant K232E (human) PR:000000189 - http://purl.obolibrary.org/obo/PR_000000189        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000189      PRO name TGF-beta receptor type-1 sequence variant K232E (human)    Synonyms PRO-Short-label: EXACT: hTGFBR1/var:K232E PRO-proteoform-std: EXACT: UniProtKB:P36897, Lys-232, CHEBI:29972 NARROW: UniProtKB:P36897-1, Lys-232, CHEBI:29972 Other: EXACT: TGF-beta receptor type-1 sequence variant 2 (human)   Definition "A TGF-beta receptor type-1 (human) that has a Glu residue at the position equivalent to Lys-232 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Lys-232, CHEBI:29972." [PMID:16928994, 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_029481 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000189 hTGFBR1/var:K232E UniProtKB:P36897, Lys-232, CHEBI:29972 | UniProtKB:P36897-1, Lys-232, CHEBI:29972 | TGF-beta receptor type-1 sequence variant 2 (human) "A TGF-beta receptor type-1 (human) that has a Glu residue at the position equivalent to Lys-232 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Lys-232, CHEBI:29972." [PMID:16928994, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:0050466 Loeys-Dietz syndrome PMID:16928994