(TOR1A Asp216His)
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Short summary
This SNP has been shown to be benign and play a protective role against Dystonia.
PolyPhen Score of .658 (possibly damaging); NBLOSUM100 score of 3;
p<.01 that this snp plays a protective role against dystonia in European populations
See Kamm C et al. 2008 (18519876).
Benign
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
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.
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.
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
Added in this revision:
hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199 hom G @ chr9:132580901
hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532 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
huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671 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