GDF5 S276A - GET-Evidence

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

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Curation:
Currentness:

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GDF5 S276A

(GDF5 Ser276Ala)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • C @ chr20:34022387: 35.9% (3806/10588) in EVS
  • C @ chr20:33485800: 36.8% (42/114) in GET-Evidence
  • Frequency shown in summary reports: 35.9% (3806/10588)

Publications
 

Genomes
 

Added in this revision:

snp-2

 

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 (benign)
    Web search results (9 hits -- see all)
  • Functional nonsynonymous single nucleotide polymorphisms from ...
    Table 2. nsSNPs that are either predicted to be functional by PolyPhen or ... GDF5. rs224331. NP_000548.1. S276A. A and S. 2. A residue NI *Propeptide (potential) ...
    physiolgenomics.physiology.org/cgi/content/full/29/2/109/T2
  • Sevtap Savas, Ian W. Taylor, Jeff L. Wrana and Hilmi Ozcelik
    GDF5. rs224331. NP_000548.1. S276A. A and S. 2. A residue NI *Propeptide (potential) ... GDF5. rs224331. NP_000548.1. 2. S276A. A and S. A residue removes S276 in. RQPASLLDV. GDF8 ...
    physiolgenomics.physiology.org/cgi/reprint/29/2/109.pdf
  • 骨・関節疾患感受性遺伝子およびその用途 - 特開200642735 | j-tokkyo
    【解決手段】GDF5遺伝子および/またはその周辺領域に存在する多型を検出することによる骨・関節疾患(例:変形性関節症など)に対する遺伝的感受性の診断方法、GDF5の発現もしくは活性 ... 周辺領域が、C20orf44遺伝子、C20orf44遺伝子とGDF5遺伝子とのフランキング領域、GDF5遺伝子とCEP2遺伝子とのフランキング領域およびCEP2 ...
    www.j-tokkyo.com/2006/C12N/JP2006-042735.shtml
  • Type II- 95%
    ... (s) for variant Reference(s) for phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 ... cancer sample, somatic mutation 16959974 GDF5 P43026 S276A 270 VAR_026120 CAMK (0.624) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt
  • Adenoviruses RSS Page 19
    ... either wild-type p65 or the S276A mutant of p65, followed by DNA microarray analysis. ... with GDF5 protein, transfection of NP explants with GDF5 plasmid, and infection of NP ...
    medworm.com/rss/search.php?...&r=Any&o=d&page=19

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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