COMP R718W - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

COMP R718W

(COMP Arg718Trp)


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 (53 hits -- see all)
  • Defects in the genes coding for cartilage extracellular ...
    Instead, an R718W mutation in COMP was identified in both families. ... mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: ...
    herkules.oulu.fi/isbn9514277333/isbn9514277333.pdf
  • A recurrent R718W mutation in COMP results in multiple ...
    A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1735347
  • Author index
    A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild ... A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild ...
    jmg.bmj.com/content/40/12/by/author
  • Epiphyseal dysplasia, multiple, 3
    A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild ... A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild ...
    gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=603
  • Eveliina Jakkula. Defects in the genes coding for cartilage ...
    Instead, an R718W mutation in COMP was identified in both families. ... IX mutations and patients with COMP mutations points to a common supramolecular ...
    herkules.oulu.fi/isbn9514277333
  • Dr Mike Briggs (BSc, PhD), research profile - research ...
    The skeletal dysplasias are an extremely diverse and complex group of genetic disorders, which primarily ... from mutations in COMP (DD469, T585M and R718W) and MATN3 (V194D) ...
    www.manchester.ac.uk/research/mike.briggs/research
  • Unique Matrix Structure in the Rough Endoplasmic Reticulum ...
    Because COMP exists as a homopentamer, only one mutant COMP subunit may result in an ... L, Superti-Furga A: A recurrent R718W mutation in COMP results in multiple epiphyseal ...
    ajp.amjpathol.org/cgi/content/full/170/1/293
  • OMIM: 600310
    Overexpression of mutant COMP led to a dose-dependent decrease in cellular viability. ... recurrent R718W mutation in COMP results in multiple epiphyseal ...
    www.genome.jp/dbget-bin/www_bget?omim+600310
  • Multiple Epiphyseal Dysplasia: eMedicine Orthopedic Surgery
    Overview: INTRODUCTION History Of The Procedure Thomas Fairbank described a patient with ... Individuals with the recurrent R718W mutation in the COMP gene have a relatively ...
    emedicine.medscape.com/article/1259038-overview
  • Mutations in the known genes are not the major cause of MED ...
    Mutations in six genes (COMP, COL9A1, COL9A2, COL9A3, MATN3 and DTDST) have been ... al: A recurrent R718W. mutation in COMP results in multiple epiphyseal ...
    www.nature.com/ejhg/journal/v13/n3/pdf/5201314a.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in