COMP N523K - GET-Evidence

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

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Curation:
Currentness:

COMP N523K

(COMP Asn523Lys)


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 (10 hits -- see all)
  • Multiple epiphyseal dysplasia, ribbing type: a novel point ...
    The mutation, C1594G, implies a N523K substitution, altering a residue at the carboxyl-terminal end of the calmodulin-like region of COMP. ...
    www.ncbi.nlm.nih.gov/pubmed/9021009
  • PubMed: 9021009
    The mutation, C1594G, implies a N523K substitution, altering a residue at the carboxyl-terminal end of the calmodulin-like region of COMP. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+9021009
  • OMIM: 600310
    GENE FUNCTION Thur et al. (2001) expressed recombinant wildtype COMP that showed structural and functional properties identical to COMP isolated from cartilage. ...
    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
  • BiomedExperts: Multiple epiphyseal dysplasia, ribbing type: a ...
    'Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.' on BiomedExperts. Find the right expert or ...
    biomedexperts.com/Abstract.bme/9021009/...
  • Briggs, MD (M D)
    Analysis of COMP-type IX collagen complexes in demonstrated that COMP interacts with type ... The mutation, C1594G, implies a N523K substitution, altering a residue at the ...
    lib.bioinfo.pl/auid:1977370
  • Beighton, PH (P H)
    Beighton, PH (P H) :: Deafness in Black children is Southern Africa. Linkage of Usher ... (COMP) gene causes the condition. The mutation, C1594G, implies a N523K substitution, ...
    lib.bioinfo.pl/auid:335685

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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