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Protein Ontology report - TGF-beta receptor type-1 sequence variant N267H (human) PR:000000191 - http://purl.obolibrary.org/obo/PR_000000191        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000191      PRO name TGF-beta receptor type-1 sequence variant N267H (human)    Synonyms PRO-Short-label: EXACT: hTGFBR1/var:N267H PRO-proteoform-std: EXACT: UniProtKB:P36897, Asn-267, CHEBI:29979 NARROW: UniProtKB:P36897-1, Asn-267, CHEBI:29979 Other: EXACT: TGF-beta receptor type-1 sequence variant 4 (human)   Definition "A TGF-beta receptor type-1 (human) that has a His residue at the position equivalent to Asn-267 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asn-267, CHEBI:29979." [PMID:16791849, 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_029483 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000191 hTGFBR1/var:N267H UniProtKB:P36897, Asn-267, CHEBI:29979 | UniProtKB:P36897-1, Asn-267, CHEBI:29979 | TGF-beta receptor type-1 sequence variant 4 (human) "A TGF-beta receptor type-1 (human) that has a His residue at the position equivalent to Asn-267 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asn-267, CHEBI:29979." [PMID:16791849, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:0050466 Loeys-Dietz syndrome PMID:16791849