GDF5 S276A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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GDF5 S276A

(GDF5 Ser276Ala)

You are viewing an old version of this page that was saved on June 22, 2011 at 11:50pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr20:34022387





GS06985 - var-GS06985-1100-36-ASM
het C @ chr20:33485801


GS06994 - var-GS06994-1100-36-ASM
het C @ chr20:33485801


GS18501 - var-GS18501-1100-36-ASM
het C @ chr20:33485801


GS18504 - var-GS18504-1100-36-ASM
het C @ chr20:33485801


GS18508 - var-GS18508-1100-36-ASM
het C @ chr20:33485801


GS18517 - var-GS18517-1100-36-ASM
het C @ chr20:33485801


GS18526 - var-GS18526-1100-36-ASM
het C @ chr20:33485801


GS18537 - var-GS18537-1100-36-ASM
het C @ chr20:33485801


GS18555 - var-GS18555-1100-36-ASM
hom C @ chr20:33485801


GS18947 - var-GS18947-1100-36-ASM
het C @ chr20:33485801


GS18956 - var-GS18956-1100-36-ASM
het C @ chr20:33485801


GS19017 - var-GS19017-1100-36-ASM
het C @ chr20:33485801


GS19025 - var-GS19025-1100-36-ASM
hom C @ chr20:33485801


GS19026 - var-GS19026-1100-36-ASM
het C @ chr20:33485801


GS19129 - var-GS19129-1100-36-ASM
het C @ chr20:33485801


GS19648 - var-GS19648-1100-36-ASM
het C @ chr20:33485801


GS19701 - var-GS19701-1100-36-ASM
het C @ chr20:33485801


GS19703 - var-GS19703-1100-36-ASM
het C @ chr20:33485801


GS19704 - var-GS19704-1100-36-ASM
het C @ chr20:33485801


GS19834 - var-GS19834-1100-36-ASM
het C @ chr20:33485801


GS20502 - var-GS20502-1100-36-ASM
hom C @ chr20:33485801


GS21767 - var-GS21767-1100-36-ASM
hom C @ chr20:33485801














Deleted in this revision:





Other external references

  • rs224331
  • 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
  • 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) ...
  • 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 ...
  • 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 ...
  • 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) ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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