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Protein Ontology report - pituitary homeobox 2 sequence variant R137P (human) PR:000000302 - http://purl.obolibrary.org/obo/PR_000000302        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000302      PRO name pituitary homeobox 2 sequence variant R137P (human)    Synonyms PRO-Short-label: EXACT: hPITX2/var:R137P PRO-proteoform-std: EXACT: UniProtKB:Q99697, Arg-137, CHEBI:50342 NARROW: UniProtKB:Q99697-1, Arg-137, CHEBI:50342 Other: EXACT: pituitary homeobox 2 sequence variant 5 (human)   Definition "A pituitary homeobox 2 (human) that has a Pro residue at the position equivalent to Arg-137 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-137, CHEBI:50342." [PMID:8944018, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:Q99697 pituitary homeobox 2 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_003766 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000302 hPITX2/var:R137P UniProtKB:Q99697, Arg-137, CHEBI:50342 | UniProtKB:Q99697-1, Arg-137, CHEBI:50342 | pituitary homeobox 2 sequence variant 5 (human) "A pituitary homeobox 2 (human) that has a Pro residue at the position equivalent to Arg-137 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-137, CHEBI:50342." [PMID:8944018, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:14686 Axenfeld-Rieger syndrome PMID:8944018