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Are nonsense mutations a particular class of mutation?

L

LouLou

New member
So I've looked at these and other previously posted links to no avail. I'm trying to figure out what kind of mutation I have nonsense, missense, etc. so when I hear about new therapies (such as PTC124) I know whether they are relevant to my situation. I thought others might be interested in learning how to find this out as well. I am Delta F508 and G551D. Please let us know if you have a website or method for figuring this out.

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>

Yes indeedie.





<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/CFmutations96-1.html
<br ">">Types of Mutations</a>



<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">Some Common Mutations and What Classes They Are... and Other Info</a>



<a target=_blank class=ftalternatingbarlinklarge href="http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html">More About Mutation Types and What They Mean</a>



I'm searching for this page I know has a list of mutations and what classes they are... having trouble. I'll post again when I find it. Those links should help for now, though.</end quote></div>
 
A

anonymous

New member
Yeah, I've too wished someone could take the list of mutations from quest or Ambry and add a column to show the type and class of each. Maybe a good project for the next student surfing this site for homework answers.

Meanwhile, I'm pretty sure that dF508 is a "deletion" and G551D is a "missense" mutation.
 
J

john81john

New member
Hi,

its nice to see here girl with celtic G551D mutation...these is missence, delta F508 is really deletion mutation, also I am sorry to write that PTC124 is really not for you...My second one is nonsence R553X (nonsence mutations have X at the end), but there are also clinical trials for deltaF508 mutations!And I think those for dF508 will be ready earlier, so dont worry!
 
J

john81john

New member
Hi ,

this I have found on this forum and , yes its true...

Here's a cheat sheet that covers some of the most common mutations.

Class I mutations (e.g., G542X, 621+1G>T, and 711+1G>T) result in total deficiency or unstable/non-functional CFTR protein.

* Class II mutations (e.g., delF508, N1303K, and delI507) disrupt normal intracellular processing (e.g., glycosylation), causing instability of CFTR protein, or interfering with its movement to the correct cellular location.
* Class III mutations (e.g., G551D) result in a normal amount of CFTR protein being produced and positioned at the cell surface, but the protein is non-functional.
* Class IV mutations (e.g., R117H, A455E) result in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency.
* Class V mutations (e.g., 3849+10KbC>T)result in reduced levels of normally functional CFTR protein at the cell membrane and are also associated with a less severe phenotype.
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>SadiesMom</b></i>

what class is 1717~1G>A and is this a splice mutation?</end quote></div>



<a target=_blank class=ftalternatingbarlinklarge href="http://www.genetests.org/servlet/access?id=8888890&key=-6cNSEg2Bj0v1&gry=INSERTGRY&fcn=y&fw=urb8&filename=/glossary/profiles/cf/details.html#DifferentialDiagnosis
">http://www.genetests.org/servl...DifferentialDiagnosis
</a>

Table 9. Ten Most Common CFTR Mutations in Caucasians with Related Phenotypic Expression Mutation Relative
Frequency Mutation
Functional
Class 1 Phenotype 2
?F508 66.0% II Classic 3
G542X 2.4% I
G551D 1.6% III
N1303Lys 1.3% II
W1282X 1.2% I
R553X 0.7% I
621+1G>T 0.7% I
1717-1G>A 0.6% I
R117H 0.3% IV Non-classic
R1162X 0.3% Not clear 4 Classic
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>SadiesMom</b></i>

what class is 1717~1G>A and is this a splice mutation?</end quote></div>



<a target=_blank class=ftalternatingbarlinklarge href="http://www.genetests.org/servlet/access?id=8888890&key=-6cNSEg2Bj0v1&gry=INSERTGRY&fcn=y&fw=urb8&filename=/glossary/profiles/cf/details.html#DifferentialDiagnosis
">http://www.genetests.org/servl...DifferentialDiagnosis
</a>

Table 9. Ten Most Common CFTR Mutations in Caucasians with Related Phenotypic Expression Mutation Relative
Frequency Mutation
Functional
Class 1 Phenotype 2
?F508 66.0% II Classic 3
G542X 2.4% I
G551D 1.6% III
N1303Lys 1.3% II
W1282X 1.2% I
R553X 0.7% I
621+1G>T 0.7% I
1717-1G>A 0.6% I
R117H 0.3% IV Non-classic
R1162X 0.3% Not clear 4 Classic
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>SadiesMom</b></i>

what class is 1717~1G>A and is this a splice mutation?</end quote></div>



<a target=_blank class=ftalternatingbarlinklarge href="http://www.genetests.org/servlet/access?id=8888890&key=-6cNSEg2Bj0v1&gry=INSERTGRY&fcn=y&fw=urb8&filename=/glossary/profiles/cf/details.html#DifferentialDiagnosis
">http://www.genetests.org/servl...DifferentialDiagnosis
</a>

Table 9. Ten Most Common CFTR Mutations in Caucasians with Related Phenotypic Expression Mutation Relative
Frequency Mutation
Functional
Class 1 Phenotype 2
?F508 66.0% II Classic 3
G542X 2.4% I
G551D 1.6% III
N1303Lys 1.3% II
W1282X 1.2% I
R553X 0.7% I
621+1G>T 0.7% I
1717-1G>A 0.6% I
R117H 0.3% IV Non-classic
R1162X 0.3% Not clear 4 Classic
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>SadiesMom</b></i>

what class is 1717~1G>A and is this a splice mutation?</end quote>



<a target=_blank class=ftalternatingbarlinklarge href="http://www.genetests.org/servlet/access?id=8888890&key=-6cNSEg2Bj0v1&gry=INSERTGRY&fcn=y&fw=urb8&filename=/glossary/profiles/cf/details.html#DifferentialDiagnosis
">http://www.genetests.org/servl...DifferentialDiagnosis
</a>

Table 9. Ten Most Common CFTR Mutations in Caucasians with Related Phenotypic Expression Mutation Relative
Frequency Mutation
Functional
Class 1 Phenotype 2
?F508 66.0% II Classic 3
G542X 2.4% I
G551D 1.6% III
N1303Lys 1.3% II
W1282X 1.2% I
R553X 0.7% I
621+1G>T 0.7% I
1717-1G>A 0.6% I
R117H 0.3% IV Non-classic
R1162X 0.3% Not clear 4 Classic
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>SadiesMom</b></i>
<br />
<br />what class is 1717~1G>A and is this a splice mutation?</end quote>
<br />
<br />
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genetests.org/servlet/access?id=8888890&key=-6cNSEg2Bj0v1&gry=INSERTGRY&fcn=y&fw=urb8&filename=/glossary/profiles/cf/details.html#DifferentialDiagnosis
">http://www.genetests.org/servl...DifferentialDiagnosis
</a><br />
<br />
<br />Table 9. Ten Most Common CFTR Mutations in Caucasians with Related Phenotypic Expression Mutation Relative
<br />Frequency Mutation
<br />Functional
<br />Class 1 Phenotype 2
<br />?F508 66.0% II Classic 3
<br />G542X 2.4% I
<br />G551D 1.6% III
<br />N1303Lys 1.3% II
<br />W1282X 1.2% I
<br />R553X 0.7% I
<br />621+1G>T 0.7% I
<br />1717-1G>A 0.6% I
<br />R117H 0.3% IV Non-classic
<br />R1162X 0.3% Not clear 4 Classic
 
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