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> |
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| − | >gi|4557335|ref|NP_000040.1| aspartoacylase [Homo sapiens] |
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| + | * part of the catalytic domain of aspartoacylase (substrate and zinc binding) |
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| − | MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLN |
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| + | * validated by cluster, frequency |
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| − | RIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMF |
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| + | * 99% loss of activity |
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| − | HYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFN |
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| + | * predominant mutation in Ashkenazi Jewish population |
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| − | EGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYP |
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| + | |||
| − | VFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH |
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| + | 265 LDGKTIPLGGDCTVYPVFVN E AAYYEKKEAFAKTTKLTLNA 305 |
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| − | http://www.ncbi.nlm.nih.gov/protein/4557335?report=fasta |
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| + | ↓ |
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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/> |
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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/>
