EC Number   |
Protein Variants |
Reference |
|---|
  3.4.22.B35 | G969S |
naturally occurring mutation, the patient shows unilateral microphthalmia, bilateral coloboma, and unilatera, as well as laryngeal cleft, dysphonia, hirsute, and sacral dimple |
771828 |
| 3.4.22.B35 | more |
identification and analysis of gene CAPN15 mutations involved in eye disorders, genotyping, overview. Generation of Capn15 knockout model mice that exhibit similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth compared to human mutant variants. Capn15(-/-) mice have anophthalmia, microphthalmia, and cataract |
771828 |
| 3.4.22.B35 | R1028K |
naturally occurring mutation, the patient shows bilateral myopia, and unilateral coloboma |
771828 |
| 3.4.22.B35 | S613L |
naturally occurring mutation, the patients show uni- or bilateral coloboma, unilateral ptosis, a short stature, global delay, microcephaly, deafness, facial dysmorphism, imperforate anus, unilateral simple ear, and prominent columella, or autism spectrum disorder |
771828 |
| 3.4.22.B35 | S720F/R800W |
naturally occurring mutation, the patient shows bilateral microphthalmia, iridio-corneal adhesion, cognitive delay, and autism |
771828 |
