Molecular characteristics

All changes associated with MORC2 neurodevelopmental disorder are missense variants.

If you consider the MORC2 gene as a chapter in a book, missense variants are typos. Some typos are small and you can still read the words, some others can change a word to something completely different than no longer makes sense. If the “wrong” word is in an important part of the chapter, like the title for example, then the impact of that change is even bigger.

In the case of MORC2 neurodevelopmental disorders, these changes all occur in an important part of the protein (the ATPase module of MORC2), which acts like a switch turning on and off other genes and proteins.