PR:000000186	TGF-beta receptor type-1 sequence variant T200I (human)	hTGFBR1/var:T200I|TGF-beta receptor type-1 sequence variant 1 (human)|UniProtKB:P36897, Thr-200, CHEBI:30009|UniProtKB:P36897-1, Thr-200, CHEBI:30009		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:15731757	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_022344	20080301	PRO:CNA