GAA D91N - GET-Evidence

Curation:
Currentness:

GAA D91N

(GAA Asp91Asn)


Short summary

This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2.

Variant evidence
Computational 1

Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.3);
PolyPhen=probably_damaging(1);
Condel=deleterious(0.978)
Mutation Tasting Prediction: Disease causing, P value: 0.769771; protein features (might be) affected (aa 1103-1208 DOMAIN Cadherin 11 might get lost.
PolyPhen: Probably damaging 1.000
SIFT: Tolerated 0.63
GVGD: GV 0.00; GD 23.01; Class C15
Multi-alignment of P10253.4 lysosomal alpha-glucosidase preproprotein [Homo sapiens] with: XP_511723.2 [Pan troglodytes] NP_001126384.1 [Pongo abelii] XP_001109980.1 [Macaca mulatta] XP_003280986.1 [Nomascus leucogenys] XP_001490370.1 [Equus caballus] XP_850649.1 [Canis familiaris] EDM06781.1 [Rattus norvegicus] NP_954549.1 [Rattus norvegicus] AAH10210.1 [Mus musculus] XP_002921833.1 [Ailuropoda melanoleuca]

Functional -
Case/Control
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

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr17:78078656: 2.4% (255/10758) in EVS
  • A @ chr17:75693250: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 2.4% (255/10758)

Publications
 

Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Mol Genet Metab. 2006 May;88(1):22-8. Epub 2005 Dec 15. PubMed PMID: 16359900.

This paper introduces a test that is able to distinguish between a GAA2 homozygote, who does not have GSD II, and patients who have the disease.

Genomes
 

Other external references
 

    dbSNP
  • rs1800299
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (35 hits -- see all)
  • h ² * * * !"#$%0123456789:;<=>?@ABCDEFGHIf² ² ² ² ² ² ² ² ² ² ...
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    www.swc.org/uploadfiles/BDCP_Presentation_1109.ppt
  • libfonts-java_0.3.3-2_all.deb
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    iitmadras.lkams.kernel.org/ubuntu/pool/main/libf/...
  • Amobari { G R A P H I C }
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    deska.ovh.org/news.php?readmore=17
  • willkommen bei m.ike - welcome to m.ike
    Eine private Seite über alles mögliche - vor allem Apple, Powerbook, iPod, Digitalfotografie und andere "neue" Technologien.
    www.sgarz.org/fusion/news.php?readmore=12
  • Immortal Destiny
    Pictures Of Angelina Jolie In The Nude Tq1 5H3b Watch Hot Sex Videos 0cd4 9F5e ... O4fG D91N Video Of Naked People ByP YX0 Free Fat Loss Diet mk1 tNT A Little Bit ...
    immortal.timo-roos.de/news.php?readmore=89
  • xv.out
    ... 11989A3     LÓLÓLÕ 223P     LÓLÓLÕ 31991L3     LÓLÓLÕ 4109P ... "ÄR/µ7Q/ˆ ùv *æR...땼vèÌâþ_þfÎ7]"ó4VÓ€i +ß/ð9¹ñ?TÄ^±CìÍ(+±Ã¹¦Ó{J× ,ߍfo™òKð.AH÷â ...
    www.astro.uu.nl/~jeffers/clone_00/xv.out
  • k*k k k*k*k*k*k*k*k*k *| **ß***Γ\p
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    kncity.co.kr/source/b_include_file.html?s_code=kncity&...
  • Eco & Ação: Ecologia e Responsabilidade - Área de cana-de ...
    O Instituto Nacional de Pesquisas Espaciais (INPE) concluiu o levantamento da ... com cana-de-açúcar nos principais estados produtores da região centro-sul na ...
    ecoeacao.com.br/index.php?option=com_content&task=view&...
  • 相关附件
    ñ2Gc"°*FlÖò*ó3ÇN<qé2+Φá*¥z_*-jⁿE°RKO°Ie;á*úå*("[â*!T ... UP*tQ@**Q@**Q@*=~·µíπ*α/₧πêσô^d2Θ^*îàƒò}Å6σê*ZW9*2=*'áiÜ&æi*åôªZegiC ...
    bbs.cnnsr.com.cn/.../bbsxp/upfile/2008-4/200847101348.doc

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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