EIF2AK3 S136C - GET-Evidence

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

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Curation:
Currentness:

EIF2AK3 S136C

(EIF2AK3 Ser136Cys)


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 @ chr2:88913273: 19.8% (2127/10758) in EVS
  • C @ chr2:88694387: 21.1% (27/128) in GET-Evidence
  • Frequency shown in summary reports: 19.8% (2127/10758)

Publications
 

Genomes
 

 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr2:88913273

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr2:88913273

 

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr2:88913273

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr2:88913273

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr2:88913273

 

 

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr2:88694388

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr2:88694388

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr2:88694388

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr2:88694388

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr2:88694388

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr2:88694388

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr2:88694388

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr2:88694388

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr2:88694388

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr2:88694388

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr2:88694388

 

Other external references
 

    dbSNP
  • rs867529
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (7 hits -- see all)
  • BMC Bioinformatics
    Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge ... EIF2AK3. Eukaryotic translation initiation factor 2a3. rs867529. S136C ...
    www.biomedcentral.com/content/pdf/1471-2105-8-301.pdf
  • Genome bioinformatic analysis of nonsynonymous SNPs
    BurkeFDaviddave@cryst.bioc.cam.ac.ukWorthLCatherinecatherine@cryst. ... EIF2AK3. Eukaryotic translation initiation factor 2a3. rs867529. S136C. 27. ENSG00000137809 ...
    biomedcentral.com/content/download/xml/1471-2105-8-301.xml
  • Type I- 99%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... Polymorphism (dbSNP:rs493430) EIF2AK3 Q9NZJ5 S703A 703 VAR_011411 PKC ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... DLX1 P56177 S136C 136 VAR_028443 PKC (0.972) Polymorphism (dbSNP:rs17853565) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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