CCM2 L198R - GET-Evidence

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

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Curation:
Currentness:

CCM2 L198R

(CCM2 Leu198Arg)


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 CCM2 gene
    Familial Cerebral Cavernous Malformation
    Familial Cerebral Cavernous Malformation 2
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CCM2
    PolyPhen-2
  • Score: 0.588 (possibly damaging)
    Web search results (6 hits -- see all)
  • CCM1 and CCM2 protein interactions in cell signaling ...
    CCM1 and CCM2 protein interactions in cell signaling: implications ... Mutant FLAG-CCM2 F217A and FLAG-CCM2 L198R proteins were produced in cells as efficiently ...
    hmg.oxfordjournals.org/cgi/content/full/14/17/2521
  • Cerebral Cavernous Malformations: Molecular Genetics of CCMs
    The CCM2 Locus at 7p. Recently, two independent groups identified a ... familial CCM2 missense mutation L198R disrupts the CCM1-CCM2 interaction, ...
    www.medscape.com/viewarticle/547592_2
  • Mutations within the MGC4607 Gene Cause Cerebral Cavernous ...
    CCM loci have already been assigned to chromosomes 7q (CCM1), 7p (CCM2), and ... age to CCM2, allowing us to refine the 22-cM CCM2. interval, published ...
    web.mit.edu/vishal/.../Public/AVM literature/25_mgc4607.pdf
  • OMIM: 607929
    A familial CCM2 L198R mutation (607929.0007) abrogated the KRIT1/CCM2 interaction, suggesting that loss of this interaction may be critical in CCM pathogenesis. ...
    www.genome.jp/dbget-bin/www_bget?omim+607929
  • Identifizierung und Charakterisierung von Interaktions ...
    CCM2 interagiert und zusammen mit CCM1 einen ternären Proteinkomplex bildet. ... die Punktmutationen in der PTB-Domäne (CCM2:p.L198R und CCM2:p.F217A) ...
    opus-bayern.de/uni-wuerzburg/volltexte/2010/2818/pdf/...
  • Cerebral cavernous malformations: clinical insights from ...
    gous mutations (somatic mutations at CCM2 or CCM3 in. addition to a ... the familial CCM2 missense mutation L198R disrupts. the CCM1–CCM2 interaction, suggesting ...
    www.societyns.org/runn/2008/awad_CCMGenetics-NSFocus2006.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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