PR:000000055	TGF-beta receptor type-2 sequence variant R528H (human)	hTGFBR2/var:R528H|TGF-beta receptor type-2 sequence variant 14 (human)|UniProtKB:P37173-1, Arg-528, CHEBI:29979		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:15731757	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_022361	20080301	PRO:CNA