EC Number |
Protein Variants |
Reference |
---|
1.14.14.29 | A316AA |
the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia |
726643 |
1.14.14.29 | G147D |
the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia |
726643 |
1.14.14.29 | G443A |
c.1328G-C, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 |
711775 |
1.14.14.29 | G87V |
c.260G-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 |
711775 |
1.14.14.29 | H285L |
c.854A-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 |
711775 |
1.14.14.29 | R112X |
the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia |
726643 |
1.14.14.29 | R324H |
c.971G-A, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 |
711775 |
1.14.14.29 | R486C |
the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia |
726643 |