PR:000000051 TGF-beta receptor type-2 sequence variant R460H (human) hTGFBR2/var:R460H|TGF-beta receptor type-2 sequence variant 10 (human)|UniProtKB:P37173-1, Arg-460, CHEBI:29979 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_029761 20080301 PRO:CNA