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 |
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* 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> |
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| + | * probably the most ancient mutation |
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| + | * Loss of activity |
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| + | |||
| + | 285 EAAYYEKKEAFAKTTKLTLN A KSIRCCLH 313 |
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| + | ↓ |
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| + | E |
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further information: |
further information: |
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Revision as of 15:56, 22 August 2012
- 914C-A change in exon 6 of the ASPA gene
- 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>
- 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
<references/>
