COMP G719D - GET-Evidence

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

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Curation:
Currentness:

COMP G719D

(COMP Gly719Asp)


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 (11 hits -- see all)
  • 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
  • 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 ...
    Mutant COMP aggregates in the endoplasmic reticulum of chondrocytes, leading to impaired COMP secretion, ... rationalise. Two mutations, R718W and G719D, map to the β13–β14 loop. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC381422/?tool=pubmed
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... 592) Polymorphism (dbSNP:rs17875899) COMP P49747 D361Y 362 VAR_007620 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Compound heterozygosity of SHOX-encompassing and downstream ...
    described G719D mutation in the C-terminal globular. domain of the ... exon 18 of COMP which results in. the amino acid substitution G719D was detected. in both ...
    genetics.uab.edu/Education/.../Genomics 11-28-07.pdf
  • Mendelian Inheritance in Man Document Reader
    MOLECULAR GENETICS COMP was a candidate gene for the site of the mutation in ... In the process of determining the COMP genomic sequence, Briggs et al. (1995) ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600310
  • Trinucleotide expansion mutations in the cartilage oligomeric ...
    BioInfoBank Library :: Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. A mutation in COL9A1 causes multiple epiphyseal ...
    lib.bioinfo.pl/pmid:9887340
  • Compound heterozygosity of SHOX-encompassing and downstream ...
    Compound heterozygosity of SHOX-encompassing and downstream PAR1 ... G719D mutation in the C-terminal globular domain of the cartilage oligomeric matrix protein gene (COMP) ...
    www.medscape.com/medline/abstract/17394206
  • SHOX取囲む下流PAR1削除の混合のheterozygosityはLangerのmesomelic異形成(LMD)で起因する。
    PSACH機能を持つ個人は軟骨のoligomericマトリックス蛋白質の遺伝子(COMP)のCターミナル球状領域の前に記述されていたG719Dの突然変異を示した。 ここに記述されているLMDのprobandは混合のheterozygosityによる2つのPAR1領域の表し、そして下流 ...
    molecularstation.com/ja/research/compound-heterozygosity-of-shox-encomp...
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal ... G719D mutation in the C-terminal globular domain of the cartilage oligomeric matrix protein gene (COMP) ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Benito-Sanz

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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