FLG P478S - 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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FLG P478S

(FLG Pro478Ser)


You are viewing an old version of this page that was saved on December 14, 2012 at 3:08pm by Natalia Trikoz.

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

  • A @ chr1:152285930: 15.8% (1705/10758) in EVS
  • A @ chr1:150552553: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 15.8% (1705/10758)

Publications
 

Edited in this revision:

Chang YC, Wu WM, Chen CH, Hu CF, Hsu LA. Association between P478S polymorphism of the filaggrin gene and risk of psoriasis in a Chinese population in Taiwan. Arch Dermatol Res. 2008 Mar;300(3):133-7. Epub 2008 Jan 9. PubMed PMID: 18193244.

 

Wang IJ, Lin TJ, Kuo CF, Lin SL, Lee YL, Chen PC. Filaggrin polymorphism P478S, IgE level, and atopic phenotypes. Br J Dermatol. 2011 Apr;164(4):791-6. doi: 10.1111/j.1365-2133.2011.10212.x. PubMed PMID: 21219289.

 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr1:152285930

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr1:152285930

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr1:152285930

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr1:152285930

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr1:152285930

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr1:152285930

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr1:152285930

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr1:152285930

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr1:152285930

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr1:152285930

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr1:152285930

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr1:152285930

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:152285930

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr1:152285930

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr1:152285930

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr1:152285930

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr1:152285930

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr1:150552554

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr1:150552554

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr1:150552554

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr1:150552554

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr1:150552554

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:150552554

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr1:150552554

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr1:150552554

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr1:150552554

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr1:150552554

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr1:150552554

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr1:150552554

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr1:150552554

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr1:150552554

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr1:150552554

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr1:150552554

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr1:150552554

 

Other external references
 

    dbSNP
  • rs11584340
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the FLG gene
    FGFR-Related Craniosynostosis
    Kallmann Syndrome
    FGFR1-Related Craniosynostosis
    Kallmann Syndrome 2
    Osteoglophonic Dysplasia
    Pfeiffer Syndrome Type 1, 2 and 3
    Ichthyosis Vulgaris
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLG
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (12 hits -- see all)
  • Association between P478S polymorphism of the filaggrin gene ...
    Thus, FLG genetic variants may modify the risk of psoriasis. ... In conclusion, our results suggest that FLG P478S polymorphism may confer susceptibility to the development ...
    www.ncbi.nlm.nih.gov/pubmed/18193244
  • FLG Gene - GeneCards | FILA Protein | FILA Antibody
    Complete information for FLG gene (protein-coding), filaggrin
    genecards.org/cgi-bin/carddisp.pl?gene=FLG&search=filaggrin
  • CrossRef Cited By Search Results : nature.com
    Association between P478S polymorphism of the filaggrin gene and risk of ... Ichthyosis vulgaris: novel FLG mutations in the German population and high ...
    www.nature.com/cited/cited.html?doi=10.1038/ng1743
  • Player guild dynamics and evolution in massively multiplayer ...
    Thus, FLG genetic variants may modify the risk of psoriasis. ... In conclusion, our results suggest that FLG P478S polymorphism may confer susceptibility to the development ...
    lib.bioinfo.pl/pmid:18537499
  • FLG
    Scientific Experts, Genomes and Genes, Publications, Research Grants, Webpages, Research Topics about FLG
    www.labome.org/gene/human/flg-2312.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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