PR:000000194 hTGFBR1/var:R487P UniProtKB:P36897, Arg-487, CHEBI:50342 | UniProtKB:P36897-1, Arg-487, CHEBI:50342 | TGF-beta receptor type-1 sequence variant 7 (human) "A TGF-beta receptor type-1 (human) that has a Pro residue at the position equivalent to Arg-487 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Arg-487, CHEBI:50342." [PMID:15731757, PMID:16928994, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14756 vascular type Ehlers-Danlos syndrome |
PMID:15731757; PMID:16928994 |