PR:000000190	TGF-beta receptor type-1 sequence variant S241L (human)	hTGFBR1/var:S241L|TGF-beta receptor type-1 sequence variant 3 (human)|UniProtKB:P36897-1, Ser-241, CHEBI:30006		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:16596670|PMID:16791849	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_029482	20080301	PRO:CNA