621+1G->T

The only identifiable mutation that I have.

it is known as a splice mutation. A splice mutation inserts, deletes or changes the number of nucleotides. this type of mutation significantly disrupts CFTR protein production and results in little or no functional CFTR in the cell.


Characteristics of patient's with this mutation:

• 94% of patients with this mutation have pancreatic insufficiency (compared to the 87% of all other CF patients)
• pancreas does not produce enough enzymes, therefore the need for oral pancreatic enzymes is high
• average sweat chloride test: 102 (other mutations: 97, a non CF'er: less than 60 mEq/l)
•  a range of lung functions with FEV 1(%) varying from the low 20's -110

the information in this post was derived from www.cftr2.org