ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:229
Internal ref. ID:15a
Submitter name:JIANG WEI
Entry date:29-SEP-2004 15:06:58
Modification date:21-SEP-2005 10:17:29
 
Regulatory sequence name:opa1: optic atrophy 1 (autosomal dominant), exon11
Entry type:Exon silencer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:
 
EMBL/Genbank/DDBJ/RefSeq Accession number:NM_015560 , AB011139
Ensembl ID:ENSG00000198836
AEdb ID:
Sequence:TGAGACC
Mutated regulatory sequence:
 
Methods:Natural ocurring mutant
Keywords:autosomal dominant optic atrophy,adoa,mitochondria,opa1,optic atrophy
 
Citation line:Baris, O.; Delettre, C.; Amati-Bonneau, P.; Surget, M. O.; Charlin, J. F.; Catier, A.; Derieux, L.; Guyomard, J. L.; Dollfus, H.; Jonveaux, P.; Ayuso, C.; Maumenee, I.; Lorenz, B.; Mohammed, S.; Tourmen, Y.; Bonneau, D.; Malthiery, Y.; Hamel, C.; Reynier, P.(2003)"Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy"Hum Mutat. 2003 Jun;21(6):656.
PubMed ID:14961560
 
Comments:
(activated in workbench):Y
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