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Protein Ontology Report - hPITX2/var:L100Q

PR:000000299 - http://purl.obolibrary.org/obo/PR_000000299
Ontology Information
PRO ID PR:000000299 Show OBO stanza / PAF
PRO name pituitary homeobox 2 sequence variant L100Q (human)
Synonyms
PRO-short-label: hPITX2/var:L100Q
EXACT: pituitary homeobox 2 sequence variant 2 (human)
PRO-proteoform-std: UniProtKB:Q99697-1, Leu-100, CHEBI:30011
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)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000299
hPITX2/var:L100Q
Leu-100, CHEBI:30011
associated_with_disease_progression DOID:14686 Axenfeld-Rieger syndrome PMID:8944018

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