EC Number   |
Protein Variants |
Reference |
|---|
   5.6.2.3 | A318T |
mutation associated with mitochondrial disease does not cause profound defects in DNA binding, DNA helicase function, or ATPase activity, kcat/Km (ATP) comparable to wild-type |
719883 |
| 5.6.2.3 | A326T |
site-directed mutagenesis |
756521 |
| 5.6.2.3 | A349P |
expression of a FANCJ mutant protein with a pathogenic A349P amino acid substitution in a wild-type background exerts a dominant negative effect on resistance to DNA cross-linking agents or TMS |
720028 |
| 5.6.2.3 | A349P |
mutation destabilizes the Fe-S cluster and abolishes helicase activity |
-, 725968 |
| 5.6.2.3 | A359T |
mutation associated with mitochondrial disease does not cause profound defects in DNA binding, DNA helicase function, or ATPase activity, kcat/Km (ATP) decreased compared to wild-type, mutant shows a 3-4fold increase in Kd (dsDNA) value compared to wild-type, mutant is much more sensitive to heat inactivation than wild-type |
719883 |
| 5.6.2.3 | A359T |
naturally occurring mutation in the linker region or CTD of the human enzyme |
756521 |
| 5.6.2.3 | A442P |
site-directed mutagenesis, the catalytic mutant shows a lethal phenotype and and mtDNA depletion |
756521 |
| 5.6.2.3 | A475P |
mutation associated with mitochondrial disease does not cause profound defects in DNA binding, DNA helicase function, or ATPase activity, kcat/Km (ATP) decreased compared to wild-type, mutant shows lowest kcat (ATP) value |
719883 |
| 5.6.2.3 | C105S |
mutant enzyme contains no Fe-S cluster, complete loss of helicase activity |
-, 725968 |
| 5.6.2.3 | C137S |
mutant enzyme contains no Fe-S cluster |
-, 725968 |
