PR:000000192	TGF-beta receptor type-1 sequence variant M318R (human)	hTGFBR1/var:M318R|TGF-beta receptor type-1 sequence variant 5 (human)|UniProtKB:P36897-1, Met-318, CHEBI:29952		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:15731757	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_022345	20080301	PRO:CNA