21. The missense mutation G16S is the most common mutation that leads to D-BP deficiency. 22. The mutations identified are generally heterozygous missense mutations : S262Y, P62S, Y172H and R535C. 23. Approximately 70 % of galactosemia-causing alleles have a single missense mutation in exon 6. 24. Two different types of mutations exist within the group of missense mutations causing loss of NCC function. 25. In patients with congenital atrial septal defect carrying a missense mutation alpha myosin heavy chain is disrupted. 26. In some cases, single missense mutations in p53 have been shown to disrupt p53 stability and function. 27. There are at least two other types of recognized point mutations, specifically missense mutation and nonsense mutation. 28. Type 2 VHL has been linked to missense mutations and is linked to a high risk of pheochromocytoma. 29. From the results it was noted that most of the mutations were due to frameshift and missense mutations . 30. The vast majority of HSP-associated mutations are missense mutations that are scattered throughout the affected protein.
