GFAP D295N - GET-Evidence

Curation:
Currentness:

GFAP D295N

(GFAP Asp295Asn)


Short summary

Reported as a nonpathogenic polymorphism.

Variant evidence
Computational -1

Polyphen 2 predicts damaging

Functional -
Case/Control 4

Allele frequency contradicts a severe pathogenic effect

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr17:42989063: 3.3% (359/10756) in EVS
  • T @ chr17:40344588: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (359/10756)

Publications
 

Li R, Messing A, Goldman JE, Brenner M. GFAP mutations in Alexander disease. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):259-68. Review. PubMed PMID: 12175861.

Listed as a nonpathogenic polymorphism.

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr17:42989063

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr17:42989063

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr17:42989063

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr17:40344589

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr17:40344589

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr17:40344589

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr17:40344589

 

Other external references
 

    dbSNP
  • rs1126642
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.942 (probably damaging)
    Web search results (7 hits -- see all)
  • letter
    mary alteration in GFAP may be responsible for Alexander dis ... novel heterozygous mutations of GFAP predicting non-conserva- tive amino acid changes, ...
    ntp.neuroscience.wisc.edu/faculty/fac-art/messing27.pdf
  • SNP Name
    GFAP. 17. rs9916491. intron. 0.86. GFAP. 17. rs1126642. nonsynonymous. D295N. 0.89. GFAP. 17 ... synonymous. 0.81. GFAP. 17. rs737128. synonymous. 0.93. GGT1. 22. rs4049829 ...
    biomedcentral.com/.../supplementary/1471-2156-8-43-s1.doc
  • 秋田大学医学部 生殖発達医学講座 小児科学分野(小児科)|小児内科全般|研究の紹介|学会/研究会2003年
    秋田大学医学部 生殖発達医学講座 小児科学分野(小児科)小児内科全般のホームページです。 ... 沢石由記夫(2003)Glial Fibrillary Acidic Protein(GFAP)遺伝子のホモ接合897GA(D295N)変移. 第15回日本アレルギー学会春期臨床大会,5月,横浜 ...
    www.med.akita-u.ac.jp/~syouni/meeting2003.html
  • Cathepsin D deficiency - molecular and cellular mechanismis ...
    To be presented, with the permission of the Medical Faculty of the ... GFAP. glial fibrillary acidic protein. GROD. granular osmiophilic deposit. hCTSD. human ...
    ethesis.helsinki.fi/julkaisut/laa/.../partanen/cathepsi.pdf
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16939713*GFAP NM_002055 NP_002046*glial fibrillary acidic protein. rs16939743*I962T ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • 医学文献検索サービス -メディカルオンライン
    医学文献の検索・閲覧、及び文献全文をダウンロード提供する医療総合Webサイトです
    meteo-intergate.com/journal/jsearch.php?jo=cl1nohat&...
  • Molecular findings in symptomatic and pre-symptomatic ...
    GFAP gene mutation analysis should be included in the initial diagnostic ... for a 879G3 A nucleotide change that results in a D295N amino acid change. ...
    www.giblinlab.org/docs/2002 Alexander disease Neurology.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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