EDAR V370A - 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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EDAR V370A

(EDAR Val370Ala)


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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

  • G @ chr2:109513601: 1.1% (114/10758) in EVS
  • G @ chr2:108880032: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (114/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.485 (possibly damaging)
    Web search results (17 hits -- see all)
  • Positive Selection in East Asians for an EDAR Allele that ...
    Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation ... V370A is located in the death domain, a protein interaction module, of EDAR. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2374902
  • PLoS ONE: Positive Selection in East Asians for an EDAR ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF SCIENCE. ... V370A is located in the death domain, a protein interaction module, of EDAR. ...
    plosone.org/article/info:doi/10.1371/journal.pone.0002209
  • Figure 2 : Genome-wide detection and characterization of ...
    FIGURE 2. Global distribution of SLC24A5 A111T and EDAR V370A. ... b, EDAR V370A is common in Asia and the Americas, but absent in Europe and Africa. Next figure | Previous ...
    nature.com/nature/journal/.../fig_tab/nature06250_F2.html
  • Figures and Tables : Genome-wide detection and ...
    Nature is the international weekly journal of science: a magazine style journal that publishes full-length research papers in all disciplines of science, as well as ...
    nature.com/nature/journal/.../fig_tab/nature06250_ft.html
  • untitled
    A mutation encoding a V370A substi- tution in EDAR is near fixation in Asia and absent in ... V370A is common in Asia and the Americas, but absent in Europe and ...
    dceg.cancer.gov/files/genomicscourse/sabeti-102007.pdf
  • OMIM: 604095
    By embryonic days 16 and 17, EDAR was expressed in large amounts in the maturing follicles. ... the EDAR gene, resulting in a val370-to-ala (V370A) substitution in ...
    www.genome.jp/dbget-bin/www_bget?omim+604095
  • USACO 日本人論文紹介 2009年9月-12月
    Ectodysplasin A receptor (EDAR )は、歯、毛髪、汗腺など外胚葉由来器官の発生に関わる遺伝子であり、近年、非同義多型であるEDAR T1540C(V370A)が毛髪の太さと関連することが示された。 また、1540Cの分布は、モンゴロイド特有の形態形質であるシャベル型切歯の分布ともよく一致する。 ...
    www.usaco.co.jp/article/past.html
  • Type III 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... gruop(s) Added kinase family(s) Removed kinase gruop(s) Removed kinase family(s) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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