PR:000000437 hGDF5/var:C400Y UniProtKB:P43026, Cys-400, CHEBI:46858 | growth/differentiation factor 5 sequence variant 1 (human) "A growth/differentiation factor 5 (human) that has a Tyr residue at the position equivalent to Cys-400 of the amino acid sequence represented by UniProtKB:P43026. UniProtKB:P43026, Cys-400, CHEBI:46858." [PMID:9288098, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080052 acromesomelic dysplasia, Grebe type |
UniProtKB_VAR:VAR_017407 |