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Thread: Mutation Class????

  1. #1

    Mutation Class????

    I saw on a posting people talking about classes of mutatons. Class 1,2, and so on. I've never heard of this. And any idea what class 2942insT is?

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  2. #2

    Mutation Class????

    I saw on a posting people talking about classes of mutatons. Class 1,2, and so on. I've never heard of this. And any idea what class 2942insT is?

    0 Not allowed!

  3. #3

    Mutation Class????

    I saw on a posting people talking about classes of mutatons. Class 1,2, and so on. I've never heard of this. And any idea what class 2942insT is?

    0 Not allowed!

  4. #4

    Mutation Class????

    No. But you could try the johns hopkins cf web site - I don't know how much detail they go into but the site is pretty helpful and talks about classes in an easy to follow way (in the section for teens). Or post in the Ambry section.

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  5. #5

    Mutation Class????

    No. But you could try the johns hopkins cf web site - I don't know how much detail they go into but the site is pretty helpful and talks about classes in an easy to follow way (in the section for teens). Or post in the Ambry section.

    0 Not allowed!

  6. #6

    Mutation Class????

    No. But you could try the johns hopkins cf web site - I don't know how much detail they go into but the site is pretty helpful and talks about classes in an easy to follow way (in the section for teens). Or post in the Ambry section.

    0 Not allowed!

  7. #7

    Mutation Class????

    I'm not completely up on it but I'll share what I know.

    Class 1 means the CFTR doesn't work at all,
    Class 2 and 3 have limited and poor functioning
    Class 4 and 5 have more intermittent functioning

    Here's a good picture that shows the 5 classes

    <a target=_blank class=ftalternatingbarlinklarge href="http://student.biology.arizona.edu/honors97/group7/Hallick1.gif
    ">http://student.biology.arizona...7/group7/Hallick1.gif
    </a>

    2942insT is a Frameshift mutation (according to the Sick Kids mutation database) which I would think means it is a class 1. What is your child's other mutation? DF508 is the most common and is a class 2. A class 1 and class 2 mutation would be expected to result in classic CF symptoms. When you mix in a class 4 or 5 with a 1, 2, or 3 you have a chance of less "typical" CF -- meaning patient could be pancreatic sufficient. None of this is well enough documented or consistent enough to draw any connections on lung progression.

    0 Not allowed!

  8. #8

    Mutation Class????

    I'm not completely up on it but I'll share what I know.

    Class 1 means the CFTR doesn't work at all,
    Class 2 and 3 have limited and poor functioning
    Class 4 and 5 have more intermittent functioning

    Here's a good picture that shows the 5 classes

    <a target=_blank class=ftalternatingbarlinklarge href="http://student.biology.arizona.edu/honors97/group7/Hallick1.gif
    ">http://student.biology.arizona...7/group7/Hallick1.gif
    </a>

    2942insT is a Frameshift mutation (according to the Sick Kids mutation database) which I would think means it is a class 1. What is your child's other mutation? DF508 is the most common and is a class 2. A class 1 and class 2 mutation would be expected to result in classic CF symptoms. When you mix in a class 4 or 5 with a 1, 2, or 3 you have a chance of less "typical" CF -- meaning patient could be pancreatic sufficient. None of this is well enough documented or consistent enough to draw any connections on lung progression.

    0 Not allowed!

  9. #9

    Mutation Class????

    I'm not completely up on it but I'll share what I know.
    <br />
    <br />Class 1 means the CFTR doesn't work at all,
    <br />Class 2 and 3 have limited and poor functioning
    <br />Class 4 and 5 have more intermittent functioning
    <br />
    <br />Here's a good picture that shows the 5 classes
    <br />
    <br /><a target=_blank class=ftalternatingbarlinklarge href="http://student.biology.arizona.edu/honors97/group7/Hallick1.gif
    ">http://student.biology.arizona...7/group7/Hallick1.gif
    </a><br />
    <br />
    <br />2942insT is a Frameshift mutation (according to the Sick Kids mutation database) which I would think means it is a class 1. What is your child's other mutation? DF508 is the most common and is a class 2. A class 1 and class 2 mutation would be expected to result in classic CF symptoms. When you mix in a class 4 or 5 with a 1, 2, or 3 you have a chance of less "typical" CF -- meaning patient could be pancreatic sufficient. None of this is well enough documented or consistent enough to draw any connections on lung progression.

    0 Not allowed!

  10. #10

    Mutation Class????

    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.

    0 Not allowed!

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