KCNE1 S38G - 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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KCNE1 S38G

(KCNE1 Ser38Gly)


You are viewing an old version of this page that was saved on February 27, 2010 at 9:24pm by Genome Importing Robot.

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

  • C @ chr21:35821821: 65.8% (7074/10758) in EVS
  • C @ chr21:34743690: 68.5% (85/124) in GET-Evidence
  • Frequency shown in summary reports: 65.8% (7074/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr21:35821821

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-26

 

Added in this revision:

snp-27

 

snp-29

 

snp-3

 

snp-30

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1805127
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (102 hits -- see all)
  • A Genotype-Dependent Intermediate ECG Phenotype in Patients ...
    Carriers of the 38GG KCNE1 genotype (n=13) had significantly lower fibrillatory ... In multivariable regression analysis, the KCNE1 S38G genotype (SS/GS coded 0, GG ...
    circep.ahajournals.org/cgi/content/short/2/1/24
  • Papers by Xu LX | Labmeeting
    [Study on the correlation between CETP TaqIB, KCNE1 S38G and eNOS T-786C gene polymorphisms for predisposition and non-valvular atrial fibrillation] ...
    www.labmeeting.com/papers/author/xu-lx
  • Common Variants in Myocardial Ion Channel Genes Modify the QT ...
    In the KCNE1 gene region, SNP rs727957 showed a positive association ... no allele differences,16,17 and KCNE1-S38G [Af(min)=0.355], neither of which were associated to QTc_RAS. ...
    circres.ahajournals.org/cgi/content/full/96/6/693
  • Circulation -- Fatkin et al. 116 (7): 782 Table BL3185473
    KCNE1. S38G. Significant. 108/108; unselected AF. Reduced IKs density+prolonged APD±early afterdepolarizations (with reduced repolarization reserve only) 55–58. Significant ...
    circ.ahajournals.org/cgi/content-nw/full/116/.../TBL3185473
  • Atrial Fibrillation in KCNE1-Null Mice -- Temple et al. 97 (1 ...
    Thus, KCNE1 deletion in mice unexpectedly leads to increased outward current in ... representation of a common nonsynonymous KCNE1 polymorphism, S38G, in ...
    circres.ahajournals.org/cgi/content/full/97/1/62
  • ScienceDirect - Heart Rhythm, Articles in Press
    The online version of Heart Rhythm on ScienceDirect, the world's leading platform for high quality peer-reviewed full-text publications in science, technology and health.
    sciencedirect.com/science?_ob=PublicationURL&...
  • doi:10.1016/S0735-1097(03)00459-5
    ventricular dysfunction, thyrotoxic heart disease. KCNE1 S38G* Xx21q22.1-q22.2 (15) ... KCNQ1/KCNE1 and KCNQ1/KCNE2 channels, reduc- ing the action potential ...
    content.onlinejacc.org/cgi/reprint/41/12/2193.pdf
  • Long QT syndrome type 5 mutations
    S38G. SNP. Extracellular. 0.69(2,3) / 0.38 for S38G (3) Lai et al. (1994) ... GenBank [KCNE1] * The mutation was also identified in apparently healthy, unrelated ...
    www.fsm.it/cardmoc/kcne1mut.htm
  • Genetics of AF: rare mutations, common polymorphisms and ...
    Author manuscript; available in PMC 2008 April 11. Published in final edited form as: ... an association with the S38G variant in KCNE1 and AF.10 The 38G ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2292402
  • Mutation of the Gene for IsK Associated With Both Jervell and ...
    This relationship makes KCNE1 a likely candidate gene, because mutations of ... data provide strong evidence that KCNE1 mutations represent a fifth LQTS locus ...
    circ.ahajournals.org/cgi/content/full/97/2/142

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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