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Protein Ontology Report - hCOMP/var:D469del

PR:000000254 - http://purl.obolibrary.org/obo/PR_000000254
Ontology Information
PRO ID PR:000000254 Show OBO stanza / PAF / GPI
PRO name cartilage oligomeric matrix protein sequence variant D469del (human)
Synonyms
PRO-short-label: EXACT: hCOMP/var:D469del
PRO-proteoform-std: NARROW: UniProtKB:P49747-1, 21-468, 470-757
Other: EXACT: cartilage oligomeric matrix protein sequence variant 30 (human)
Definition A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-469 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-468, 470-757. [PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P49747 cartilage oligomeric matrix protein (human)
Taxon NCBITaxon:9606 Homo sapiens
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:000000254
hCOMP/var:D469del
associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007633

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