PR:000000189	TGF-beta receptor type-1 sequence variant K232E (human)	hTGFBR1/var:K232E|TGF-beta receptor type-1 sequence variant 2 (human)|UniProtKB:P36897-1, Lys-232, CHEBI:29972		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:16928994	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_029481	20080301	PRO:CNA