Mutations
- Thread starter Jellybaby
- Start date
S
stephen
Guest
There is a very useful website that provides the information you are looking for - Clinical and Functional Translation of CFTR (CFTR2) website.
It is sponsored by the Cystic Fibrosis Foundation, Johns Hopkins Medicine, and Sequenom Laboratories.
As they state,
“CFTR2 is a website designed to provide information about specific cystic fibrosis (CF) mutations to patients, researchers, and the general public. For each mutation included in the database, the website will provide information about:
The data on specific mutations comes from information collected from actual patients at CF Centers around the world. (Remember when your CF Center asked you to sign an agreement giving them permission to anonymously share some of your medical information?)
You may find the website a little difficult to use at first. I did. It contains a lot of useful information, including the frequency occurrence of the most “popular” mutations. The information provided about my mutations matched my actual condition very well.
Go to http://www.cftr2.org/index.php
To actually search the mutation database, from “Quick Links” on the left select “Search Mutation Database”.
Good luck.
It is sponsored by the Cystic Fibrosis Foundation, Johns Hopkins Medicine, and Sequenom Laboratories.
As they state,
“CFTR2 is a website designed to provide information about specific cystic fibrosis (CF) mutations to patients, researchers, and the general public. For each mutation included in the database, the website will provide information about:
- Whether the mutation causes cystic fibrosis when combined with another CF-causing mutation, and
- Information about the sweat chloride, lung function, pancreatic status, and pseudomonas infection rates in patients in the CFTR2 database with this mutation.”
The data on specific mutations comes from information collected from actual patients at CF Centers around the world. (Remember when your CF Center asked you to sign an agreement giving them permission to anonymously share some of your medical information?)
You may find the website a little difficult to use at first. I did. It contains a lot of useful information, including the frequency occurrence of the most “popular” mutations. The information provided about my mutations matched my actual condition very well.
Go to http://www.cftr2.org/index.php
To actually search the mutation database, from “Quick Links” on the left select “Search Mutation Database”.
Good luck.
K
kgfrompa
Guest
Wow I really am going to be spending time on this link Thank You!
Just been thinking about this....how are cf mutations ranked in severity does anyone know? Just curious as to which is the worst and the best
CF mutations are ranked into different "Classes" depending upon a number of factors including functionality (how well they function).
To get you started:
Class I, II or III are usually associated with more severe forms of CF. Example of a Class II mutation is DF508; example of a Class III is G551D.
Class IV or V are associated with less severe CF. Example of a Class IV mutation is R117H.
(Sometimes you will see Class VI, but this is not formally recognised, as of 2013)
Pancreatic severity has been linked to certain genotypes e.g. DF508/DF508, whereas Lung disease severity has not been linked to any particular genotype.
W
Wldhrtd1
Guest
both my boys are ddf508 and are very mild... lung wise.. not coughers.. but both have digestive issues... our cf doc seems to think that they have a modifier gene that keeps them mild.... thank you for the link.. going to check it out!!