EC Number |
Protein Variants |
Reference |
---|
2.3.1.296 | A34P |
the mutation is associated with autosomal recessive congenital ichthyosis |
753772 |
2.3.1.296 | A34T |
the mutant shows about 20% of wild type activity |
754842 |
2.3.1.296 | A34T |
the mutation is associated with autosomal recessive congenital ichthyosis |
753772 |
2.3.1.296 | A59V |
the mutant shows about 20% of wild type activity |
754842 |
2.3.1.296 | A59V |
the mutation is associated with autosomal recessive congenital ichthyosis |
753772 |
2.3.1.296 | A59V |
the mutation is associated with congenital ichthyosis |
752823 |
2.3.1.296 | D129E |
the mutation is associated with autosomal recessive congenital ichthyosis |
753772 |
2.3.1.296 | D172N |
the mutation is associated with autosomal recessive congenital ichthyosis |
753772 |
2.3.1.296 | E131del |
the mutation is associated with autosomal recessive congenital ichthyosis |
753772 |
2.3.1.296 | E131del |
the mutation is associated with congenital ichthyosis |
752823 |