Application | Comment | Organism |
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medicine | studies of the c.1054G3A mutation in exon 11 of subunit MCCB detected in the homozygous state in a patient with 3-methylcrotonyl-CoA carboxylase deficiency. Sequence analysis of MCCB cDNA revealed two overlapping transcripts, one containing the normal 73 bp of exon 11 including the missense mutation c.1054G3A, i.e. p.G352R, the other with exon 11 replaced by a 64-bp sequence from intron 10, i.e. cryptic exon 10a that maintains the reading frame and is flanked by acceptable splice consensus sites. Both transcripts lack detectable 3-methylcrotonyl-CoA carboxylase activity. The reduction in utilization of exon 11 associated with the c.1054G3A mutation is due to alteration of this exon splice enhancer | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | - |
patient with 3-methylcrotonyl-CoA carboxylase deficiency | - |