PR:000000195	TGF-beta receptor type-1 sequence variant R487E (human)	hTGFBR1/var:R487E|TGF-beta receptor type-1 sequence variant 8 (human)|UniProtKB:P36897-1, Arg-487, CHEBI:29972		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:16791849|PMID:16928994	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_029484	20080301	PRO:CNA