Table 1.

Classification of mutation type on the basis of the effect on protein structure and function

Modified protein (mutations modifying or partially abolishing the protein function)	Complex, deletion in frame
	Complex, insertion in frame
	Deletion, in frame
	Insertion, in frame
	Substitution, missense
No protein (mutations completely abolishing the protein function)	Complex, frame shift
	Deletion, frame shift
	Insertion, frame shift
	No detectable mRNA/protein
	Substitution, nonsense
	Whole gene deletion

Splicing site mutations were not classified into any of group, because of unpredictable effect on protein structure and sequence