BCS1L
Gene name: BCS1-like (S. cerevisiae)OMIM ID: 603647
Chromosome location: 2q35
Mutations
| Disease/Phenotype | Mitochondrial complex III deficiency |
|---|---|
| Reference transcript | NM_004328.4 |
| DNA Change | c.547C>T |
| A.A. Change | p.Arg183Cys |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16(10):1241-52. |
| Disease/Phenotype | Mitochondrial complex III deficiency |
|---|---|
| Reference transcript | NM_004328.4 |
| DNA Change | c.550C>T |
| A.A. Change | p.Arg184Cys |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16(10):1241-52. |