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Protein Ontology report - pituitary homeobox 2 sequence variant L100Q (human) PR:000000299 - http://purl.obolibrary.org/obo/PR_000000299        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000299      PRO name pituitary homeobox 2 sequence variant L100Q (human)    Synonyms PRO-Short-label: EXACT: hPITX2/var:L100Q PRO-proteoform-std: EXACT: UniProtKB:Q99697, Leu-100, CHEBI:30011 NARROW: UniProtKB:Q99697-1, Leu-100, CHEBI:30011 Other: EXACT: pituitary homeobox 2 sequence variant 2 (human)   Definition "A pituitary homeobox 2 (human) that has a Gln residue at the position equivalent to Leu-100 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Leu-100, CHEBI:30011." [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_003763 Back to top Functional Annotation (GO-centric view) Switch to PRO Centric View       Disease Associated GO Term Protein Forms & Complexes Evidence DO:14686 Axenfeld-Rieger syndrome PR:000000299 hPITX2/var:L100Q PMID:8944018