KCNE1 S38G - GET-Evidence

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

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(KCNE1 Ser38Gly)

You are viewing an old version of this page that was saved on March 5, 2012 at 3:02pm 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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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





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


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




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


Added in this revision:


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het 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


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

  • rs17846179
  • rs1805127
  • 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 ...
  • 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] ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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.
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

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Gene search

"GENE" or "GENE A123C":

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