Difference between revisions of "Glu285ala"

From Bioinformatikpedia
(Created page with ">gi|4557335|ref|NP_000040.1| aspartoacylase [Homo sapiens] MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLN RIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNT…")
 
 
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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>
>gi|4557335|ref|NP_000040.1| aspartoacylase [Homo sapiens]
 
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* part of the catalytic domain of aspartoacylase (substrate and zinc binding)
MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLN
 
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* validated by cluster, frequency
RIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMF
 
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* 99% loss of activity
HYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFN
 
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* predominant mutation in Ashkenazi Jewish population
EGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYP
 
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VFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH
 
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265 LDGKTIPLGGDCTVYPVFVN E AAYYEKKEAFAKTTKLTLNA 305
http://www.ncbi.nlm.nih.gov/protein/4557335?report=fasta
 
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A
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further information:
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http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?protein=P45381&mutation=p.Glu285Ala
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<references/>

Latest revision as of 15:53, 22 August 2012

  • 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/>