GDF5 R438L - GET-Evidence

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

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Curation:
Currentness:

GDF5 R438L

(GDF5 Arg438Leu)


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 GDF5 gene
    Brachydactyly Type A2
    Acromesomelic Dysplasia, Hunter-Thompson Type
    Brachydactyly Type C
    Chondrodysplasia, Grebe Type
    Fibular Hypoplasia and Complex Brachydactyly
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GDF5
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (100 hits -- see all)
  • BMP signalling in limb development and disease - Research ...
    The GDF5 mutant R438L binds additionally to BMPR1A. This gained function causes a ... GDF5 has an essential function during embryonic development, especially during ...
    www.molgen.mpg.de/research/mundlos/projects_bmp.html
  • Activating and deactivating mutations in the receptor ...
    The R438L mutant, in contrast, showed increased biological activity when compared with WT GDF5. ... The positions of R438L and L441P mutations in GDF5 are indicated (more ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1190374/?tool=pubmed
  • Activating and deactivating mutations in the receptor ...
    The R438L mutant, in contrast, showed increased biological activity when compared with WT GDF5. ... phenotype (R438L) is caused by a loss of receptor-binding specificity, ...
    www.ncbi.nlm.nih.gov/pubmed/16127465
  • Jahrbuch-CD der MPG 2003 - Activating and deactivating mut
    The R438L mutant, in contrast, showed increased biological activity when compared with WT GDF5. ... phenotype (R438L) is caused by a loss of receptor-binding specificity, ...
    mpg.de/forschungsergebnisse/.../2005/05/publZIM52.html
  • 6 Zusammenfassung
    GDF5 und dem GDF5-responsiven Rezeptor BMPR1B führen zu verschiedenen Typen ... R438L-Mutation führt zu einem Funktionsgewinn von GDF5, welcher somit auch verstärkt über ...
    diss.fu-berlin.de/diss/servlets/MCRFileNodeServlet/...
  • JCI - Activating and deactivating mutations in the receptor ...
    Expression analysis during joint development and overexpression of Gdf5 in vivo. ... ( B) Overexpression of WT Gdf5 as well as the Gdf5 mutants R438L and L441P in chick embryos ...
    www.jci.org/articles/view/25118/figure/6
  • Jahrbuch-CD der MPG 2003 - GDF5 Is a Second Locus for Mult
    In this family, polymorphic markers flanking the GDF5 locus were found to cosegregate with the disease, and ... mutation that predicts an R438L substitution in the GDF5 protein. ...
    mpg.de/forschungsergebnisse/.../2006/05/publZIM160.html
  • AJHG - Localization of a Multiple Synostoses–Syndrome Disease ...
    In this family, polymorphic markers flanking the GDF5 locus were found to cosegregate with the disease, and ... mutation that predicts an R438L substitution in the GDF5 protein. ...
    www.cell.com/AJHG/abstract/S0002-9297(07)60761-7
  • JCI - Activating and deactivating mutations in the receptor ...
    The positions of R438L and L441P mutations in GDF5 are indicated by arrows. ... The amino acids mutated in GDF5 are indicated in red (L441) and green (R438) ...
    www.jci.org/articles/view/25118/figure/2
  • Objekt-Metadaten @ FU Dissertationen Online / Mycore 2.0.2
    GDF5 ist ein Mitglied der TGFβ-Superfamilie und beeinflusst als ... Mutationen in GDF5 (R438L, L441P, N445T) und BMPR1B (I200K, R486W), deren molekulare Effekte unbekannt sind ...
    diss.fu-berlin.de/diss/receive/FUDISS_thesis_000000002110

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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