TOR1A D216H - GET-Evidence

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Currentness:

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TOR1A D216H

(TOR1A Asp216His)


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Short summary

This SNP has been shown to be benign and play a protective role against Dystonia.

Variant evidence
Computational 2

PolyPhen Score of .658 (possibly damaging); NBLOSUM100 score of 3;

Functional -
Case/Control 4

p<.01 that this snp plays a protective role against dystonia in European populations

See Kamm C et al. 2008 (18519876).

Familial -
 
Clinical importance
Severity 1

Benign

Treatability -
Penetrance 1

The incidence of Dystonia is rare (<1%), but the incidence is decreased by this SNP

 

Impact

Low clinical importance, Likely protective

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Total cases/controls case+ case– control+ control– p-value odds ratio
Early-Onset Primary Dystonia (DYT1)
0 84 6 42 0.0019 0.000

 

Allele frequency

  • G @ chr9:132580901: 10.3% (1108/10758) in EVS
  • G @ chr9:131620721: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 10.3% (1108/10758)

Publications
 

Kamm C, Fischer H, Garavaglia B, Kullmann S, Sharma M, Schrader C, Grundmann K, Klein C, Borggraefe I, Lobsien E, Kupsch A, Nardocci N, Gasser T. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology. 2008 Jun 3;70(23):2261-2. PubMed PMID: 18519876.

This SNP has been shown to be benign and play a protective role against Dystonia.

Cases/controls case+ case– control+ control– p-value odds ratio
Early-Onset Primary Dystonia (DYT1)
0 84 6 42 0.0019 0.000

 

Brüggemann N, Kock N, Lohmann K, König IR, Rakovic A, Hagenah J, Schmidt A, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C. The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? Neurology. 2009 Apr 21;72(16):1441-3. PubMed PMID: 19380705.

 

Sharma N, Franco RA Jr, Kuster JK, Mitchell AA, Fuchs T, Saunders-Pullman R, Raymond D, Brin MF, Blitzer A, Bressman SB, Ozelius LJ. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Mov Disord. 2010 Oct 15;25(13):2183-7. PubMed PMID: 20669276; PubMed Central PMCID: PMC3095887.

 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr9:132580901

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr9:132580901

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr9:132580901

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom G @ chr9:132580901

 

Added in this revision:

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr9:132580901

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr9:132580901

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr9:132580901

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr9:132580901

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr9:132580901

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr9:132580901

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr9:132580901

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr9:132580901

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr9:131620722

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr9:131620722

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr9:131620722

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr9:131620722

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr9:131620722

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr9:131620722

 

Other external references
 

    dbSNP
  • rs1801968
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.205 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

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