EFHC1 R159W - GET-Evidence

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

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Curation:
Currentness:

EFHC1 R159W

(EFHC1 Arg159Trp)


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

  • T @ chr6:52303291: 10.0% (1072/10758) in EVS
  • T @ chr6:52411249: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 10.0% (1072/10758)

Publications
 

Genomes
 

 

 

 

 

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr6:52411250

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr6:52411250

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr6:52411250

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr6:52411250

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr6:52411250

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr6:52411250

 

Other external references
 

    dbSNP
  • rs3804506
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.057 (benign)
    Web search results (13 hits -- see all)
  • Heterogeneity at the JME 6p11-12 locus: absence of mutations ...
    PURPOSE: The EFHC1 gene, encoding a protein with a Ca(2+)-sensing EF-hand motif, ... The EFHC1 variants reported in Mexican families may be mendelian ...
    tripdatabase.com/doc/491712-Heterogeneity-at-the-JME-6p11...
  • Heterogeneity at the JME 6p11–12 Locus: Absence of Mutations ...
    Heterogeneity at the JME 6p11–12 Locus: Absence of Mutations in the EFHC1 Gene in Linked Dutch Families ... (c.-146_147delGC), nonsynonymous (R159W, R182H, M448T, I619L) ...
    www3.interscience.wiley.com/journal/118725862/abstract
  • BSIでの研究成果:若年性ミオクロニーてんかん原因遺伝子の発見 - 理研BSIニュース No. 29(2005年8月号 ...
    研究チームは、米国カリフォルニア大学ロサンゼルス校との共同研究により、最も発症数の多いてんかんである若年性ミオクロニーてんかん(JME)の原因遺伝子EFHC1を発見しました。 ... また、JME患者だけでなく正常コントロールでもある一定の割合で見つかるR159W、 R182H、 I619Lの3種の多型も見出されました。 ...
    www.brain.riken.go.jp/bsi-news/bsinews29/no29/research1.html
  • 若年性ミオクロニーてんかん原因遺伝子の発見
    今まで報告されたほとんどの特発性てんかん原因遺伝子はイオンチャネルをコードしますが、EFHC1はイオンチャネルではない新規な蛋白をコードします。 ... ある一定の割合で見つかるR159W, R182H, I619Lの3種の多型も見いだされました。 EFHC1はカルシウムイオン結合モチーフを ...
    riken.go.jp/r-world/info/release/press/.../040719/index.html
  • 神経遺伝研究 チ ー ム
    R159W,R182H,I619L の 3 種の多型も見いだされた。 EFHC1 はカルシウムイオン結合モチーフを持つ 640 アミ. ノ酸からなる新規タンパクをコードする。 ... the EFHC1 protein overlapped in the mouse brain, the. EFHC1 protein increased current ...
    riken.go.jp/r-world/info/release/pamphlet/.../pdf04/0705.pdf
  • Heterogeneity at the JME 6p11-12 locus: absence of mutations ...
    PURPOSE: The EFHC1 gene, encoding a protein with a Ca(2+)-sensing EF-hand motif, is localized at 6p12 and was recently reported as mutated in six ...
    www.medscape.com/medline/abstract/17054699?prt=true
  • Trenité, DGAKN (Dorothée G A Kasteleijn-Nolst)
    Trenité, DGAKN (Dorothée G A Kasteleijn-Nolst) :: Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for ...
    lib.bioinfo.pl/auid:2007439
  • EFHC1, a protein mutated in juvenile myoclonic epilepsy ...
    BioInfoBank Library :: EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. Molecular characterization ...
    lib.bioinfo.pl/pmid:16824517
  • A Multiplex Human Syndrome Implicates a Key Role for ...
    Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. ... EFHC1. EF-hand domain (C') containing 1. 11. E3, c.190C>T. n/a. CGG-R; TGG-W; R159W; this ...
    download.cell.com/AJHG/.../PIIS0002929709000081.mmc1.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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