COMP D342Y - GET-Evidence

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

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Curation:
Currentness:

COMP D342Y

(COMP Asp342Tyr)


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 (3 hits -- see all)
  • OMIM: 600310
    Overexpression of mutant COMP led to a dose-dependent decrease in cellular viability. ... the COMP gene, resulting in an asp342-to-tyr (D342Y) substitution in ...
    www.genome.jp/dbget-bin/www_bget?omim+600310
  • Defects in the genes coding for cartilage extracellular ...
    Instead, an R718W mutation in COMP was identified in both families. ... patients with collagen IX mutations and patients with COMP mutations points to a ...
    herkules.oulu.fi/isbn9514277333/isbn9514277333.pdf
  • Die Auswirkungen von Chondrodysplasie-assoziierten Mutationen ...
    COMP in which Asp361 was substituted by Tyr (D361Y) were both secreted into the ... exprimierte rekombinant Wildtyp-COMP, das strukturell und funktionell ...
    uni-koeln.de/med-fak/biochemie/.../diss/jochen_thur.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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