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Protein Ontology report - cartilage oligomeric matrix protein sequence variant D374del (human)
PR:000000251 -
http://purl.obolibrary.org/obo/PR_000000251
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000251
PRO name
cartilage oligomeric matrix protein sequence variant D374del (human)
Synonyms
PRO-Short-label
:
EXACT:
hCOMP/var:D374del
PRO-proteoform-std
:
EXACT:
UniProtKB:P49747
, 21-373, 375-757
NARROW:
UniProtKB:P49747-1
, 21-373, 375-757
Other
:
EXACT:
cartilage oligomeric matrix protein sequence variant 28 (human)
Definition
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-374 of the amino acid sequence represented by
UniProtKB:P49747-1
. Example:
UniProtKB:P49747-1
, 21-373, 375-757." [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:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_007624
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000251
hCOMP/var:D374del
UniProtKB:P49747, 21-373, 375-757 | UniProtKB:P49747-1, 21-373, 375-757 | cartilage oligomeric matrix protein sequence variant 28 (human)
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-374 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-373, 375-757." [PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007624