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 November 29, 2012 at 3:55am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.001
SIFT: Tolerated 0.06
GVGD: Class C0

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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr21:35821821

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr21:35821821

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr21:35821821

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom C @ chr21:35821821

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom C @ chr21:35821821

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr21:35821821

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr21:35821821

 

 

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

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr21:35821821

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr21:35821821

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr21:35821821

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr21:35821821

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr21:35821821

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr21:35821821

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chr21:35821821

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr21:35821821

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr21:35821821

 

Added in this revision:

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr21:35821821

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr21:34743691

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr21:34743691

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr21:34743691

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr21:34743691

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr21:34743691

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr21:34743691

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr21:34743691

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr21:34743691

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr21:34743691

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr21:34743691

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr21:34743691

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr21:34743691

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr21:34743691

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr21:34743691

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr21:34743691

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr21:34743691

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr21:34743691

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr21:34743691

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr21:34743691

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr21:34743691

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr21:34743691

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr21:34743691

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr21:34743691

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr21:34743691

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr21:34743691

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr21:34743691

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr21:34743691

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr21:34743691

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr21:34743691

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chr21:34743691

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr21:34743691

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr21:34743691

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr21:34743691

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr21:34743691

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr21:34743691

 

Other external references
 

    dbSNP
  • rs17846179
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • 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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