Mutations/Classes/Alleles

[karon72]

I have read a few posts in the past discussing the severity of one's specific mutation, the classification of the mutation & something with the alleles. Although I know that does not totally dictate the severity of the disease, it is very interesting. Does anyone have a good link or info on any of it that is somewhat easy to understand? Erin has DF508 & N1303K....anyone else?

Thanks!

 

[karon72]

I have read a few posts in the past discussing the severity of one's specific mutation, the classification of the mutation & something with the alleles. Although I know that does not totally dictate the severity of the disease, it is very interesting. Does anyone have a good link or info on any of it that is somewhat easy to understand? Erin has DF508 & N1303K....anyone else?

Thanks!

 

[karon72]

I have read a few posts in the past discussing the severity of one's specific mutation, the classification of the mutation & something with the alleles. Although I know that does not totally dictate the severity of the disease, it is very interesting. Does anyone have a good link or info on any of it that is somewhat easy to understand? Erin has DF508 & N1303K....anyone else?

Thanks!

 

[Emily65Roses]

The Classes are I-V. I is the worst, in general, and V is the mildest. Delta F508 and your N1303K are both Class IIs.

Here's information on the Classes, and the proof that those mutations are Class IIs (so you don't think I pulled that out of my butt haha).
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">CF mutations</a>

And regarding allele, this is the definition I copied from <a target=_blank class=ftalternatingbarlinklarge href="http://www.dictionary.com">Dictionary.com</a>:
Any of several forms of a gene, usually arising through mutation, that are responsible for hereditary variation.

So basically, an allele is a fairly general term.

 

[Emily65Roses]

The Classes are I-V. I is the worst, in general, and V is the mildest. Delta F508 and your N1303K are both Class IIs.

Here's information on the Classes, and the proof that those mutations are Class IIs (so you don't think I pulled that out of my butt haha).
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">CF mutations</a>

And regarding allele, this is the definition I copied from <a target=_blank class=ftalternatingbarlinklarge href="http://www.dictionary.com">Dictionary.com</a>:
Any of several forms of a gene, usually arising through mutation, that are responsible for hereditary variation.

So basically, an allele is a fairly general term.

 

[Emily65Roses]

The Classes are I-V. I is the worst, in general, and V is the mildest. Delta F508 and your N1303K are both Class IIs.

Here's information on the Classes, and the proof that those mutations are Class IIs (so you don't think I pulled that out of my butt haha).
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">CF mutations</a>

And regarding allele, this is the definition I copied from <a target=_blank class=ftalternatingbarlinklarge href="http://www.dictionary.com">Dictionary.com</a>:
Any of several forms of a gene, usually arising through mutation, that are responsible for hereditary variation.

So basically, an allele is a fairly general term.

 

[Chaggie]

Here's a fairly easy to understand link

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedicine.com/CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a>

I also have the same mutations as your daughter as well as few other I know of on this site.

 

[Chaggie]

Here's a fairly easy to understand link

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedicine.com/CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a>

I also have the same mutations as your daughter as well as few other I know of on this site.

 

[Chaggie]

Here's a fairly easy to understand link

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedicine.com/CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a>

I also have the same mutations as your daughter as well as few other I know of on this site.

 

[izemmom]

The Classes are I-V. I is the worst, in general, and V is the mildest. Delta F508 and your N1303K are both Class IIs.




Huh. I always thought DF508 was a class I?????

 

[izemmom]

The Classes are I-V. I is the worst, in general, and V is the mildest. Delta F508 and your N1303K are both Class IIs.




Huh. I always thought DF508 was a class I?????

 

[izemmom]

The Classes are I-V. I is the worst, in general, and V is the mildest. Delta F508 and your N1303K are both Class IIs.




Huh. I always thought DF508 was a class I?????

 

[Emily65Roses]

Delta F508 is a Class II. Check the link I left, it says so right on it.

Copied directly from the page:
<i>Class II mutations (e.g., <b>delF508</b>, 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.</i>

 

[Emily65Roses]

Delta F508 is a Class II. Check the link I left, it says so right on it.

Copied directly from the page:
<i>Class II mutations (e.g., <b>delF508</b>, 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.</i>

 

[Emily65Roses]

Delta F508 is a Class II. Check the link I left, it says so right on it.

Copied directly from the page:
<i>Class II mutations (e.g., <b>delF508</b>, 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.</i>

 

[karon72]

Thanks for the links Emily & Chris. I checked them out & DF508 is a Class II. I wonder when or if they will publish mutations & similarities. I am sure they are compiling lots of data now. Anyway, thanks again.

 

[karon72]

Thanks for the links Emily & Chris. I checked them out & DF508 is a Class II. I wonder when or if they will publish mutations & similarities. I am sure they are compiling lots of data now. Anyway, thanks again.

 

[karon72]

Thanks for the links Emily & Chris. I checked them out & DF508 is a Class II. I wonder when or if they will publish mutations & similarities. I am sure they are compiling lots of data now. Anyway, thanks again.