GDF5 E491K - GET-Evidence

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

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Curation:
Currentness:

GDF5 E491K

(GDF5 Glu491Lys)


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: 0.994 (probably damaging)
    Web search results (7 hits -- see all)
  • OMIM: 601146
    GDF5 showed an apparent molecular mass of about 25 kD under nonreducing conditions, ... the GDF5 gene, resulting in a glu491-to-lys (E491K) substitution in ...
    www.genome.jp/dbget-bin/www_bget?omim+601146
  • PubMed: 16892395
    Mutational analysis revealed a novel E491K mutation in the GDF5 gene in both families. ... The E491K mutation co-segregated with the affected individuals in the two ...
    www.genome.jp/dbget-bin/www_bget?pubmed+16892395
  • Identification and functional characterization of a novel ...
    Mutational analysis revealed a novel E491K mutation in the GDF5 gene in both families. ... The E491K mutation co-segregated with the affected individuals in the two ...
    lib.bioinfo.pl/pmid:18177735
  • Novel HSF4 Mutation Causes Congenital Total White Cataract in ...
    Mutational analysis revealed a novel E491K mutation in the GDF5 gene in both families. ... The E491K mutation co-segregated with the affected individuals in the two ...
    lib.bioinfo.pl/pmid:16876512
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... GDF5 and represents the second GDF5 mutation identified for SYM1 to date. The E491K ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Jiang

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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