alabamamom
New member
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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Mutation Class????
- Thread starter alabamamom
- Start date
alabamamom
New member
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?
alabamamom
New member
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?
M
Mommafirst
Guest
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.
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.
M
Mommafirst
Guest
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.
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.
M
Mommafirst
Guest
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.
<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.
M
Mommafirst
Guest
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.
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.
M
Mommafirst
Guest
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.
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.
M
Mommafirst
Guest
I wanted to add that I saw a discussion once that broke down the five classes as this:
<br />
<br />Class 1 -- the CFTR protein is not made at all
<br />Class 2 -- the wrong protein is made
<br />Class 3 -- the right protein is made, but is blocked from being released
<br />Class 4 -- the right protein is made, but the passage way to release it is faulty and limits the amout released.
<br />Class 5 -- the right protein is made, but the passage way is inconsistent.
<br />
<br />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.
<br />
<br />Class 1 -- the CFTR protein is not made at all
<br />Class 2 -- the wrong protein is made
<br />Class 3 -- the right protein is made, but is blocked from being released
<br />Class 4 -- the right protein is made, but the passage way to release it is faulty and limits the amout released.
<br />Class 5 -- the right protein is made, but the passage way is inconsistent.
<br />
<br />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.
cff.org actually has some info on this. Apparently they've added a 6th Class.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/aboutCFFoundation/Publications/connections/archive/March2010/Targeting-Mutations-that-Cause-Cystic-Fibrosis.cfm">CFF.org link re mutation classes</a>
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
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/aboutCFFoundation/Publications/connections/archive/March2010/Targeting-Mutations-that-Cause-Cystic-Fibrosis.cfm">CFF.org link re mutation classes</a>
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
cff.org actually has some info on this. Apparently they've added a 6th Class.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/aboutCFFoundation/Publications/connections/archive/March2010/Targeting-Mutations-that-Cause-Cystic-Fibrosis.cfm">CFF.org link re mutation classes</a>
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
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/aboutCFFoundation/Publications/connections/archive/March2010/Targeting-Mutations-that-Cause-Cystic-Fibrosis.cfm">CFF.org link re mutation classes</a>
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
cff.org actually has some info on this. Apparently they've added a 6th Class.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/aboutCFFoundation/Publications/connections/archive/March2010/Targeting-Mutations-that-Cause-Cystic-Fibrosis.cfm">CFF.org link re mutation classes</a>
<br />
<br />
<br />There is more info in the link, but here is their chart:
<br />
<br />Class 1 - stop signal in CF gene occurs too soon; no CFTR is made
<br />Class 2 - CFTR is misfolded keeping it from reaching the right place; affects 80 percent of CF patients
<br />Class 3 - CFTR is made and in right place, but does not function normally
<br />Class 4 - Opening in CFTR is faulty
<br />Class 5 - CFTR is made in smaller than normal quantities
<br />Class 6 - CFTR degrades too fast; not enough protien is present
<br />
<br />
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/aboutCFFoundation/Publications/connections/archive/March2010/Targeting-Mutations-that-Cause-Cystic-Fibrosis.cfm">CFF.org link re mutation classes</a>
<br />
<br />
<br />There is more info in the link, but here is their chart:
<br />
<br />Class 1 - stop signal in CF gene occurs too soon; no CFTR is made
<br />Class 2 - CFTR is misfolded keeping it from reaching the right place; affects 80 percent of CF patients
<br />Class 3 - CFTR is made and in right place, but does not function normally
<br />Class 4 - Opening in CFTR is faulty
<br />Class 5 - CFTR is made in smaller than normal quantities
<br />Class 6 - CFTR degrades too fast; not enough protien is present
<br />
<br />
M
Mommafirst
Guest
Thanks Dana -- I didn't know anything about a 6th class.
M
Mommafirst
Guest
Thanks Dana -- I didn't know anything about a 6th class.
M
Mommafirst
Guest
Thanks Dana -- I didn't know anything about a 6th class.
E
edan
Guest
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.
"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.
E
edan
Guest
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.
"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.