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Protein Ontology Report - hCOMP/var:C348R

PR:000000260 - http://purl.obolibrary.org/obo/PR_000000260
Ontology Information
PRO ID PR:000000260 Show OBO stanza / PAF
PRO name cartilage oligomeric matrix protein sequence variant C348R (human)
Synonyms
PRO-short-label: hCOMP/var:C348R
EXACT: cartilage oligomeric matrix protein sequence variant 6 (human)
PRO-proteoform-std: UniProtKB:P49747-1, Cys-348, CHEBI:29952
Definition A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Cys-348 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-348, CHEBI:29952. [PMID:11746045, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P49747 cartilage oligomeric matrix protein (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:000000260
hCOMP/var:C348R
Cys-348, CHEBI:29952
associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:11746045

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