Difference between revisions of "Ala305glu"

From Bioinformatikpedia
 
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* 914C-A change in exon 6 of the ASPA gene
 
* 914C-A change in exon 6 of the ASPA gene
  +
* [http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs28940574 dbSNP:rs28940574]
 
* found exclusively in non-Jewish patients => 60% of deleterious mutations in disease patients <ref>Kaul, R., Gao, G. P., Aloya, M., Balamurugan, K., Petrosky, A., Michals, K., Matalon, R. Canavan disease: mutations among Jewish and non-Jewish patients. Am. J. Hum. Genet. 55: 34-41, 1994 </ref>
 
* found exclusively in non-Jewish patients => 60% of deleterious mutations in disease patients <ref>Kaul, R., Gao, G. P., Aloya, M., Balamurugan, K., Petrosky, A., Michals, K., Matalon, R. Canavan disease: mutations among Jewish and non-Jewish patients. Am. J. Hum. Genet. 55: 34-41, 1994 </ref>
  +
* validated by cluster
 
* probably the most ancient mutation
 
* probably the most ancient mutation
 
* Loss of activity
 
* Loss of activity

Latest revision as of 17:02, 22 August 2012

  • 914C-A change in exon 6 of the ASPA gene
  • dbSNP:rs28940574
  • found exclusively in non-Jewish patients => 60% of deleterious mutations in disease patients <ref>Kaul, R., Gao, G. P., Aloya, M., Balamurugan, K., Petrosky, A., Michals, K., Matalon, R. Canavan disease: mutations among Jewish and non-Jewish patients. Am. J. Hum. Genet. 55: 34-41, 1994 </ref>
  • validated by cluster
  • probably the most ancient mutation
  • Loss of activity
285 EAAYYEKKEAFAKTTKLTLN A KSIRCCLH 313
                         ↓
                         E 

further information:

http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?protein=P45381&mutation=p.Ala305Glu


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