GATA4 S377G - GET-Evidence

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

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Curation:
Currentness:

GATA4 S377G

(GATA4 Ser377Gly)


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

  • G @ chr8:11614575: 10.1% (1086/10758) in EVS
  • G @ chr8:11651983: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 10.1% (1086/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr8:11614575

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr8:11614575

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr8:11614575

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr8:11614575

 

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr8:11651984

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr8:11651984

 

Other external references
 

    dbSNP
  • rs3729856
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • Isolation, characterization and genetic analysis of canine ...
    GATA4 is expressed early in the developing heart where it plays a key ... Additionally, the GATA4 S377G homozy- gous mutation appeared to be the cause for 7% of ...
    www.ias.ac.in/jgenet/Vol86No3/241.pdf
  • GeneCanvas
    GATA4/-180/in4ins/del. GATA4/A+56/in4C. GATA4/A-108/in5G. GATA4/A-131 ... GATA4/C274C. GATA4/N352N. GATA4/S377G. GATA4/T-128/in4C. GATA4/T233T. GCGR/G40S. GNB3/S275S ...
    genecanvas.idf.inserm.fr/infusions/.../PolymorphismsList.php
  • SNPs Identified in GATA4
    S377G. A/G. G6270a11. 1985. chr8:11653531. 3' UTR. view. G/C. Download a ... and Genotyping > Candidate Gene List > GATA4 Main Page > SNPs Identified in GATA4 ...
    cardiogenomics.med.harvard.edu/.../GATA4_validated_SNPs.html
  • Investigation Between the S377G3 GATA-4 Polymorphism and Migraine
    The S377G polymorphism (rs3729856) is located in exon 5 of GATA-4 gene and was ... Distribution of the S377G Polymorphism in Migraineurs and Controls of Original ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2577932
  • Type II- 99%
    ... EFNB1 P98172 R154H 157 VAR_023142 RSK (0.866) 15166289 GATA4 P43694 S377G 381 VAR_038196 GSK (0.933) Polymorphism (dbSNP:rs3729856) CBS P35520 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_99.txt
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Effect Reference(s) for variant Reference(s) for phosphorylation site ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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