PR:000000200 hACVR1/var:R206H UniProtKB:Q04771, Arg-206, CHEBI:29979 | activin receptor type-1 sequence variant 1 (human) "An activin receptor type-1 (human) that has a His residue at the position equivalent to Arg-206 of the amino acid sequence represented by UniProtKB:Q04771. This variation is located within the GS-motif. UniProtKB:Q04771, Arg-206, CHEBI:29979." [PMID:8397373, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:13374 fibrodysplasia ossificans progressiva |
PMID:8397373 |