EC Number   |
Protein Variants |
Reference |
|---|
   1.1.1.178 | D86G |
28% residual activity. Mutation causes severe disruption of mitochondrial morphology |
711851 |
| 1.1.1.178 | L122V |
affects brain development and brain function in patients |
673530 |
| 1.1.1.178 | L122V |
nucleotide substitution C364G, inborn mutation involved in X-linked MHBD deficiency |
670477 |
| 1.1.1.178 | more |
10 X-linked MHBD deficiency patient phenotypes, overview |
670477 |
| 1.1.1.178 | more |
mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation |
711851 |
| 1.1.1.178 | N274S |
nucleotide substitution A740G, inborn mutation involved in lethal X-linked MHBD deficiency |
670477 |
| 1.1.1.178 | Q165H |
complete loss of activity, no binding of cofactor NAD+ or NADH |
711851 |
| 1.1.1.178 | R130C |
64% residual activity, mutant is unstable at room temperature and steadily loses enzyme activity. Mutation causes severe disruption of mitochondrial morphology |
711851 |
| 1.1.1.178 | R130C |
affects brain development and brain function in patients |
673530 |
| 1.1.1.178 | R130C |
nucleotide substitution C388T, inborn mutation involved in lethal X-linked MHBD deficiency |
670477 |
