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Protein Ontology Report - hCOMP/var:S459del

PR:000000252 - http://purl.obolibrary.org/obo/PR_000000252
Ontology Information
PRO ID PR:000000252 Show OBO stanza / PAF
PRO name cartilage oligomeric matrix protein sequence variant S459del (human)
Synonyms
PRO-short-label: hCOMP/var:S459del
EXACT: cartilage oligomeric matrix protein sequence variant 29 (human)
PRO-proteoform-std: UniProtKB:P49747-1, 21-458, 460-757
Definition A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Ser-459 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-458, 460-757. [PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P49747 cartilage oligomeric matrix protein (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


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

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000252
hCOMP/var:S459del
associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007631

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