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Protein Ontology report - growth/differentiation factor 5 sequence variant L441P (human) PR:000000439 - http://purl.obolibrary.org/obo/PR_000000439        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000439      PRO name growth/differentiation factor 5 sequence variant L441P (human)    Synonyms PRO-Short-label: EXACT: hGDF5/var:L441P PRO-proteoform-std: EXACT: UniProtKB:P43026, Leu-441, CHEBI:50342 Other: EXACT: growth/differentiation factor 5 sequence variant 3 (human)   Definition "A growth/differentiation factor 5 (human) that has a Pro residue at the position equivalent to Leu-441 of the amino acid sequence represented by UniProtKB:P43026. UniProtKB:P43026, Leu-441, CHEBI:50342." [PMID:12121354, PMID:16127465, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:P43026 growth/differentiation factor 5 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_017408 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000439 hGDF5/var:L441P UniProtKB:P43026, Leu-441, CHEBI:50342 | growth/differentiation factor 5 sequence variant 3 (human) "A growth/differentiation factor 5 (human) that has a Pro residue at the position equivalent to Leu-441 of the amino acid sequence represented by UniProtKB:P43026. UniProtKB:P43026, Leu-441, CHEBI:50342." [PMID:12121354, PMID:16127465, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:0050790 fibular hypoplasia and complex brachydactyly UniProtKB_VAR:VAR_017408