PLA2G4E N371S - GET-Evidence

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

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Curation:
Currentness:

PLA2G4E N371S

(PLA2G4E Asn371Ser)


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 @ chr15:42287606: 4.4% (447/10210) in EVS
  • C @ chr15:40074897: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (447/10210)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr15:42287606

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr15:42287606

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr15:42287606

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr15:42287606

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr15:42287606

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr15:40074898

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr15:40074898

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr15:40074898

 

Other external references
 

    dbSNP
  • rs4924595
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • Cytosolic phospholipase A2 epsilon - Homo sapiens (Human)
    PLA2G4E. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... PLA2G4E. PharmGKB. PA142671169. GenAtlas. Search... Phylogenomic databases. eggNOG ...
    www.uniprot.org/uniprot/Q3MJ16
  • Association of the Polymorphism of Cytosolic PLA2 Family ...
    Schizophrenia is a serious mental disorder with a lifetime prevalence rate of 1% in the ... in the PLA2G4D locus,rs4924595 in the PLA2G4E locus,rs1356410 in the PLA2G4F locus, ...
    bioscity.com/html/200911/23/association-of-the-polymorphi...
  • UniProt: Q3MJ16
    DT 25-JUL-2006, sequence version 2. DT 20-APR-2010, entry version 47. DE RecName: ... Phospholipase A2 group IVE; GN Name=PLA2G4E; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q3MJ16

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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