Rare variant found in a patient with MT-C1D; found in association with a nucleotide transition causing exon skipping; does not affect protein stability, processing and import in the mitochondrion; can restore complex I activity when overexpressed in patient fibroblasts.
| Predicate | Object |
|---|---|
| rdf:type | |
| rdfs:comment |
Rare variant found in a patient with MT-C1D; found in association with a nucleotide transition causing exon skipping; does not affect protein stability, processing and import in the mitochondrion; can restore complex I activity when overexpressed in patient fibroblasts.
|
| uniprot:range | |
| uniprot:substitution |
R
|