EDNRB A183G - GET-Evidence

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

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Curation:
Currentness:

EDNRB A183G

(EDNRB Ala183Gly)


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

  • None available.

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: 0.033 (benign)
    Web search results (12 hits -- see all)
  • Endothelin Receptor, Type B
    EDNRB gene in the index patient of this family. The Ser305Asn ... (A183G) in the third transmembrane domain of. EDNRB. The parents and one healthy brother, ...
    www.cags.org.ae/pdf/131244.pdf
  • EDNRB
    EXON. ETHNICITY (Number of families) REFERENCES. EDNRB. Hirschsprung Disease -26G>A. 5' UTR ... A183G. 548C>G. exon 2. Tunisian (1) Attie 1995. G186R. G>A. exon2. Somali (1) ...
    hearing.harvard.edu/genepages/ednrbdream.htm
  • Homologous pigmentation mutations in human, mouse and other ...
    Coat colour mutations in mouse Ednrb and its. ligand endothelin 3 ... are homozygous for a missense mutation, A183G (Table. 4. These girls both had pigmentary ...
    hmg.oxfordjournals.org/cgi/reprint/6/10/1613.pdf
  • ednrb.xls
    CHANGE. EXON. ETHNICITY (Number of families) REFERENCES. 2. EDNRB. Hirschsprung Disease -26G>A ... A183G. 548C>G. exon 2. Tunisian (1) Attie 1995. 24. G186R. G>A. exon2. Somali ...
    www.hpcgg.org/LMM/SeparatePages/ednrb.xls
  • 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
    Mutations in the EDNRB gene can give rise to abnormalities in the EDNRB/EDN3/ECE-1 ... Abe et al[29]发现HD患者A183G、W276C、R319W、M374I、P383L等5个无功能错义突变, 人工诱导该部位突变 ...
    ggene.cn/html/journal/wjg/2009/1118/3860.html
  • Mendelian Inheritance in Man Document Reader
    EDNRB was a candidate gene because it mapped to the same region of chromosome 13 as did HSCR2. ... of an alanine by a glycine (A183G) in the third transmembrane domain of EDNRB. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+131244
  • 内皮素B受体基因与先天性巨结肠关系的研究进展
    Mutations in the EDNRB gene can give rise to. abnormalities in the EDNRB/EDN3/ECE-1 ... HD患者A183G、W276C、 R319W、M374I、P383L等5个无功能错义突. 变 , 人工诱导该部位突变检测胞内Ca. 2+ 浓度 ...
    www.wjgnet.com/1009-3079/17/2607.pdf
  • Anticoagulant factor protein S inhibits the proliferation of ...
    Five mutated EDNRB (A183G, W276C, R319W, M374I and P383L) cDNAs were ... However, the number of binding sites of A183G, W276C and P383L was markedly decreased. ...
    lib.bioinfo.pl/pmid:8873131
  • Clinical results of dermofasciectomy for dupuytren's disease ...
    Five mutated EDNRB (A183G, W276C, R319W, M374I and P383L) cDNAs were ... However, the number of binding sites of A183G, W276C and P383L was markedly decreased. ...
    lib.bioinfo.pl/pmid:17287058
  • OMIM: 131244
    EDNRB was a candidate gene because it mapped to the same region of chromosome 13 as did HSCR2. ... of an alanine by a glycine (A183G) in the third transmembrane domain of EDNRB. ...
    www.genome.jp/dbget-bin/www_bget?omim+131244

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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