• Profile photo of iloveblondesiloveblondes
    Member
    #171205138532

    Well, that’s the mutation I carry. My husband’s is DF508. My sister had cf and had those 2 mutatons. we have a daughter, but she does not have cf. my sister was fairly healthy until her 20s, though.

    Profile photo of iloveblondesiloveblondes
    Member
    #171205273713

    Well, that’s the mutation I carry. My husband’s is DF508. My sister had cf and had those 2 mutatons. we have a daughter, but she does not have cf. my sister was fairly healthy until her 20s, though.

    Profile photo of iloveblondesiloveblondes
    Member
    #171205405027

    Well, that’s the mutation I carry. My husband’s is DF508. My sister had cf and had those 2 mutatons. we have a daughter, but she does not have cf. my sister was fairly healthy until her 20s, though.

    Profile photo of unclecraigyunclecraigy
    Member
    #171205138530

    Looks like Steve reported on this 10/08/2007, although it isn’t overly helpful…

    “MaryAnn,

    The 2942insT is not that common but we have seen it several times. It is difficult to say exactly since I only have a few cases and the second mutation is different in each case. However, based on the mutation type and if combined with deltaF508 it could fall into the typical CF classification. Of course remember that all CF is variable and not everyone with the same mutations will have the same disease. ”

    Just google some of the text above, and it should take you to the right spot.

    Profile photo of unclecraigyunclecraigy
    Member
    #171205273711

    Looks like Steve reported on this 10/08/2007, although it isn’t overly helpful…

    “MaryAnn,

    The 2942insT is not that common but we have seen it several times. It is difficult to say exactly since I only have a few cases and the second mutation is different in each case. However, based on the mutation type and if combined with deltaF508 it could fall into the typical CF classification. Of course remember that all CF is variable and not everyone with the same mutations will have the same disease. ”

    Just google some of the text above, and it should take you to the right spot.

    Profile photo of unclecraigyunclecraigy
    Member
    #171205405025

    Looks like Steve reported on this 10/08/2007, although it isn’t overly helpful…

    “MaryAnn,

    The 2942insT is not that common but we have seen it several times. It is difficult to say exactly since I only have a few cases and the second mutation is different in each case. However, based on the mutation type and if combined with deltaF508 it could fall into the typical CF classification. Of course remember that all CF is variable and not everyone with the same mutations will have the same disease. ”

    Just google some of the text above, and it should take you to the right spot.

    Profile photo of JennyJoyJennyJoy
    Member
    #171205138514

    Thanks Dana — I didn’t know anything about a 6th class.

    Profile photo of JennyJoyJennyJoy
    Member
    #171205273698

    Thanks Dana — I didn’t know anything about a 6th class.

    Profile photo of JennyJoyJennyJoy
    Member
    #171205405012

    Thanks Dana — I didn’t know anything about a 6th class.

    Profile photo of DebiDebi
    Member
    #171205138513

    cff.org actually has some info on this. Apparently they’ve added a 6th Class.

    CFF.org link re mutation classes

    There is more info in the link, but here is their chart:

    Class 1 – stop signal in CF gene occurs too soon; no CFTR is made
    Class 2 – CFTR is misfolded keeping it from reaching the right place; affects 80 percent of CF patients
    Class 3 – CFTR is made and in right place, but does not function normally
    Class 4 – Opening in CFTR is faulty
    Class 5 – CFTR is made in smaller than normal quantities
    Class 6 – CFTR degrades too fast; not enough protien is present

    Profile photo of DebiDebi
    Member
    #171205273697

    cff.org actually has some info on this. Apparently they’ve added a 6th Class.

    CFF.org link re mutation classes

    There is more info in the link, but here is their chart:

    Class 1 – stop signal in CF gene occurs too soon; no CFTR is made
    Class 2 – CFTR is misfolded keeping it from reaching the right place; affects 80 percent of CF patients
    Class 3 – CFTR is made and in right place, but does not function normally
    Class 4 – Opening in CFTR is faulty
    Class 5 – CFTR is made in smaller than normal quantities
    Class 6 – CFTR degrades too fast; not enough protien is present

    Profile photo of DebiDebi
    Member
    #171205405011

    cff.org actually has some info on this. Apparently they’ve added a 6th Class.

    CFF.org link re mutation classes

    There is more info in the link, but here is their chart:

    Class 1 – stop signal in CF gene occurs too soon; no CFTR is made

    Class 2 – CFTR is misfolded keeping it from reaching the right place; affects 80 percent of CF patients

    Class 3 – CFTR is made and in right place, but does not function normally

    Class 4 – Opening in CFTR is faulty

    Class 5 – CFTR is made in smaller than normal quantities

    Class 6 – CFTR degrades too fast; not enough protien is present

    Profile photo of JennyJoyJennyJoy
    Member
    #171205138492

    I wanted to add that I saw a discussion once that broke down the five classes as this:

    Class 1 — the CFTR protein is not made at all
    Class 2 — the wrong protein is made
    Class 3 — the right protein is made, but is blocked from being released
    Class 4 — the right protein is made, but the passage way to release it is faulty and limits the amout released.
    Class 5 — the right protein is made, but the passage way is inconsistent.

    This is based on my not so great memory from over 2 years ago, so I apologize if I have this incorrect, but this was my take on it.

    Profile photo of JennyJoyJennyJoy
    Member
    #171205273678

    I wanted to add that I saw a discussion once that broke down the five classes as this:

    Class 1 — the CFTR protein is not made at all
    Class 2 — the wrong protein is made
    Class 3 — the right protein is made, but is blocked from being released
    Class 4 — the right protein is made, but the passage way to release it is faulty and limits the amout released.
    Class 5 — the right protein is made, but the passage way is inconsistent.

    This is based on my not so great memory from over 2 years ago, so I apologize if I have this incorrect, but this was my take on it.

    Profile photo of JennyJoyJennyJoy
    Member
    #171205404992

    I wanted to add that I saw a discussion once that broke down the five classes as this:

    Class 1 — the CFTR protein is not made at all

    Class 2 — the wrong protein is made

    Class 3 — the right protein is made, but is blocked from being released

    Class 4 — the right protein is made, but the passage way to release it is faulty and limits the amout released.

    Class 5 — the right protein is made, but the passage way is inconsistent.

    This is based on my not so great memory from over 2 years ago, so I apologize if I have this incorrect, but this was my take on it.

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