Glu285ala

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  • 854A-C change in the ASPA gene <ref>Kaul, R., Gao, G. P., Balamurugan, K., Matalon, R. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nature Genet. 5: 118-123, 1993</ref>
  • part of the catalytic domain of aspartoacylase (substrate and zinc binding)
  • validated by cluster, frequency
  • 99% loss of activity
  • predominant mutation in Ashkenazi Jewish population
265 LDGKTIPLGGDCTVYPVFVN E AAYYEKKEAFAKTTKLTLNA 305
                         ↓
                         A

further information: http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?protein=P45381&mutation=p.Glu285Ala

<references/>