EDNRB G57S - GET-Evidence

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

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Curation:
Currentness:

EDNRB G57S

(EDNRB Gly57Ser)


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

  • T @ chr13:78492540: 0.7% (73/10758) in EVS
  • Frequency shown in summary reports: 0.7% (73/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the EDNRB gene
    Hirschsprung Disease
    Waardenburg Syndrome Type IV
    EDNRB-Related Hirschsprung Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDNRB
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (33 hits -- see all)
  • Heterozygous endothelin receptor B ( EDNRB) mutations in ...
    EDNRB missense mutations (G57S, R319W. and P383L) in isolated HSCR. ... The EDNRB gene encodes a 442 amino acid heptahelical receptor. that equally binds EDN 1, 2 ...
    hmg.oxfordjournals.org/cgi/reprint/5/3/355.pdf
  • Heterozygous endothelin receptor B (EDNRB) mutations in ...
    Here, we report heterozygous EDNRB missense mutations (G57S, R319W and P383L) in isolated HSCR. ... EDNRB missense mutations relative to the functional domains of the protein. ...
    hmg.oxfordjournals.org/cgi/content/full/5/3/355
  • BiomedExperts: Heterozygous endothelin receptor B (EDNRB ...
    Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung ... Here, we report heterozygous EDNRB missense mutations (G57S, R319W and P383L) in isolated ...
    biomedexperts.com/Abstract.bme/8852660/...
  • Functional characterization of three mutations of the ...
    Only few EDNRB mutations found in HSCR have been explored and some of them seem ... The G57S and R319W mutant receptors, despite their normal coupling to Gaq, have ...
    www.ncbi.nlm.nih.gov/pubmed/11471546
  • EDNRB
    EXON. ETHNICITY (Number of families) REFERENCES. EDNRB. Hirschsprung Disease -26G>A. 5' UTR ... Sakai 2000 *RET mutation also found, Trisomy 21. G57S. G>A. exon 1 ...
    hearing.harvard.edu/genepages/ednrbdream.htm
  • GeneCanvas
    Polymorphisms in the 5' region are numbered either from the start of transcription or ... EDNRB/G-544A. EDNRB/G57S. EDNRB/L277L. EGR1/C-151T. EGR1/T+861C. ELA2 ...
    genecanvas.ecgene.net/infusions/.../PolymorphismsList.php
  • EDNRB - endothelin receptor type B
    Promoter hypermethylation of the EDNRB gene in nasopharyngeal carcinoma. ... mutant human endothelin B receptor ( hETB) (G57S, R319W and P383L) in isolated HSCR were ...
    www.ihop-net.org/UniPub/iHOP/gs/87879.html
  • Association Between Endothelin Receptor B Nonsynonymous ...
    EDNRB signaling is required during embryogenesis for the migration of ... Loss of EDNRB function is associated with several genetic diseases: Hirschsprung ...
    jnci.oxfordjournals.org/cgi/content/full/97/17/1297
  • Dissertations from Karolinska Institutet - Published by ...
    An additional non-consanguineous family segregated two identical EDNRB mutations (G57S), as well as a RET mutation (R982C) ...
    diss.kib.ki.se/1999/91-628-3476-2
  • 内皮素B受体基因与先天性巨结肠关系的研究进展_基因时代
    目前发现EDNRB基因参与血管发育并维持其正常功能, 以及促进神经嵴细胞和黑色素细胞生长和分化, 与Waardenburg综合征, 黑色素瘤以及HD等疾病的发病 ... EDNRB基因C109R、W226C、G57S基因突变, 基因突变率8.7%. Duan et al[38]通过单链构象多态性分析我国患者中发现EDNRB...
    ggene.cn/html/journal/wjg/2009/1118/3860.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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