Difference between revisions of "Ala305glu"
From Bioinformatikpedia
| (2 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
* 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 |
||
| + | * Loss of activity |
||
| + | |||
| + | 285 EAAYYEKKEAFAKTTKLTLN A KSIRCCLH 313 |
||
| + | ↓ |
||
| + | E |
||
further information: |
further information: |
||
Latest revision as of 16:02, 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
<references/>
