COMP D472Y - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

COMP D472Y

(COMP Asp472Tyr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the COMP gene
    Multiple Epiphyseal Dysplasia, Dominant
    COMP-Related Multiple Epiphyseal Dysplasia
    Pseudoachondroplasia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COMP
    Web search results (27 hits -- see all)
  • Trinucleotide expansion mutations in the cartilage oligomeric ...
    Cartilage oligomeric matrix protein (COMP) is a pentameric extracellular matrix ... The COMP monomer is a modular protein composed of an N-terminal ...
    hmg.oxfordjournals.org/cgi/content/full/8/1/123
  • Cartilage Oligomeric Matrix Protein Increases in Serum after ...
    Mutations in the COMP gene have been associated with syndromes of ... To verify that COMP is regulated by GH in vivo, we measured COMP levels in serum ...
    jcem.endojournals.org/cgi/content/full/89/10/5156
  • 過去の主要論文
    Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein (COMP) affects its early vesicle trafficking in ER and induces apoptosis. ...
    www.med.osaka-cu.ac.jp/Neurosci/Results(Main).html
  • 氏 名 佐々木 博 光
    学位論文名 Mutation (D472Y) in the Type 3 Repeat Domain of Cartilage ... その結果、D472Y 変異を示す異常型 COMP は小胞体からゴルジ装置への蛋白分泌過程に異常を生じていることを. 明らかにし、従来報告されてきた巨大な異常小胞体には、多量の異常型 ...
    www3.osaka-cu.ac.jp/doctoral/pdf/4357.pdf
  • Structure of a thrombospondin C-terminal fragment reveals a ...
    The EMBO Journal is a science journal containing review articles and research papers in the broad areas of molecular, structural and cellular biology.
    www.nature.com/emboj/journal/v23/n6/full/7600166a.html
  • Structure of a thrombospondin C-terminal fragment reveals a ...
    The C-terminal regions of COMP and TSP-4 bind ECM molecules including collagens ... Mutant COMP aggregates in the endoplasmic reticulum of chondrocytes, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC381422/?tool=pubmed
  • Cartilage Oligomeric Matrix Protein-Deficient Mice Have ...
    We have generated COMP-null mice to study the role of COMP in vivo. ... Mutation (D472Y) in the Type 3 Repeat Domain of Cartilage Oligomeric Matrix Protein ...
    mcb.asm.org/cgi/content/abstract/22/12/4366
  • Matrilin-3 mutations that cause chondrodysplasias interfere ...
    Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein ... ReviewThe role of cartilage oligomeric matrix protein (COMP) in skeletal disease. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1735938
  • Genetic diseases of connective tissues: cellular and ...
    COMP monomers associate via N-terminal recognition sequences into homopentamers, ... Mori, H. Mutation (D472Y) in the type 3 repeat. domain of cartilage ...
    cooperlab.wustl.edu/.../Miner/Papers/ECMDiseaseReview09.pdf
  • 大阪市立大学 - 博士論文要旨
    現在、平成15年3月31日から平成18年3月24日までに博士の学位を授与したものを掲載していますが、順次、追加していく予定です。 ... Mutation (D472Y) in the Type 3 Repeat Domain of Cartilage Oligomeric Matrix Protein (COMP)affects Its Early ...
    www3.osaka-cu.ac.jp/doctoral

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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