GDF5 S475N - GET-Evidence

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

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Curation:
Currentness:

GDF5 S475N

(GDF5 Ser475Asn)


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: 0.997 (probably damaging)
    Web search results (5 hits -- see all)
  • GDF5 Is a Second Locus for Multiple-Synostosis Syndrome
    GDF5 Is a Second Locus for Multiple-Synostosis Syndrome. Katherine Dawson,1,* Petra Seeman, ... In the family, an S475N substitution, also in the highly conserved ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1424701
  • OMIM: 601146
    GDF5 showed an apparent molecular mass of about 25 kD under nonreducing ... a ser475-to-asn (S475N) mutation in GDF5 that segregated with the phenotype in 39 ...
    www.genome.jp/dbget-bin/www_bget?omim+601146
  • doi:10.1016/S0171-9335(09)00023-5
    59 (2009 March) • © Elsevier GmbH • Munich • http://www.elsevier.de ... 32. Jahrestagung der Deutschen Gesellschaft für Zellbiologie. www.zellbiologie2009.de. 1 ...
    congress.cpb.de/fileadmin/user_upload/.../Abstracts_DGZ.pdf
  • GDF5 Is a Second Locus for Multiple-Synostosis Syndrome
    GDF5 Is a Second Locus for Multiple-Synostosis Syndrome. Katherine Dawson,1,* Petra Seeman, ... In the family, an S475N substitution, also in the highly conserved ...
    ukpmc.ac.uk/articlerender.cgi?artid=751021
  • Report GDF5 Is a Second Locus for Multiple-Synostosis Syndrome
    the multiple-synostosis–syndrome allele was secreted as a mature GDF5 dimer. ... S475N substitution, also in the highly conserved active- signaling domain of GDF5, was ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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