DF508 and W1282X... what class are these? and where can I find out?

J

Juliet

New member
There's information about specific mutations here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html
">http://www.genet.sickkids.on.ca/cftr/Home.html
</a>
W1282X is here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539
">http://www.genet.sickkids.on.c...lPage.external?sp=539
</a>
And DF508 is here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
For any mutation you can go to the search (text) and type in the mutation. Then, once you know which Exon the mutation is on, you can go to the CFTR Genes / CFTR Domains page and find where in the formed protein that mutation exists. DF508 is on the NBD1 link (binding domain). If your mutation is on Exon 5, it won't come up from that diagram, but Exon 5 is on MSD1. For some reason the diagram doesn't link to the Exon 5 page... I'm on the team as a patient representative for the CFTR2 project. The plan is to expand the database globally as well as add more information to the specific genotypes. ~Juliet
 
J

Juliet

New member
There's information about specific mutations here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html
">http://www.genet.sickkids.on.ca/cftr/Home.html
</a>
W1282X is here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539
">http://www.genet.sickkids.on.c...lPage.external?sp=539
</a>
And DF508 is here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
For any mutation you can go to the search (text) and type in the mutation. Then, once you know which Exon the mutation is on, you can go to the CFTR Genes / CFTR Domains page and find where in the formed protein that mutation exists. DF508 is on the NBD1 link (binding domain). If your mutation is on Exon 5, it won't come up from that diagram, but Exon 5 is on MSD1. For some reason the diagram doesn't link to the Exon 5 page... I'm on the team as a patient representative for the CFTR2 project. The plan is to expand the database globally as well as add more information to the specific genotypes. ~Juliet
 
J

Juliet

New member
There's information about specific mutations here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html
">http://www.genet.sickkids.on.ca/cftr/Home.html
</a>
W1282X is here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539
">http://www.genet.sickkids.on.c...lPage.external?sp=539
</a>
And DF508 is here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
For any mutation you can go to the search (text) and type in the mutation. Then, once you know which Exon the mutation is on, you can go to the CFTR Genes / CFTR Domains page and find where in the formed protein that mutation exists. DF508 is on the NBD1 link (binding domain). If your mutation is on Exon 5, it won't come up from that diagram, but Exon 5 is on MSD1. For some reason the diagram doesn't link to the Exon 5 page... I'm on the team as a patient representative for the CFTR2 project. The plan is to expand the database globally as well as add more information to the specific genotypes. ~Juliet
 
J

Juliet

New member
There's information about specific mutations here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html
">http://www.genet.sickkids.on.ca/cftr/Home.html
</a>
W1282X is here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539
">http://www.genet.sickkids.on.c...lPage.external?sp=539
</a>
And DF508 is here:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a>
For any mutation you can go to the search (text) and type in the mutation. Then, once you know which Exon the mutation is on, you can go to the CFTR Genes / CFTR Domains page and find where in the formed protein that mutation exists. DF508 is on the NBD1 link (binding domain). If your mutation is on Exon 5, it won't come up from that diagram, but Exon 5 is on MSD1. For some reason the diagram doesn't link to the Exon 5 page... I'm on the team as a patient representative for the CFTR2 project. The plan is to expand the database globally as well as add more information to the specific genotypes. ~Juliet
 
J

Juliet

New member
There's information about specific mutations here:
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html
">http://www.genet.sickkids.on.ca/cftr/Home.html
</a><br />
<br />W1282X is here:
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539
">http://www.genet.sickkids.on.c...lPage.external?sp=539
</a><br />
<br />And DF508 is here:
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=246
">http://www.genet.sickkids.on.c...lPage.external?sp=246
</a><br />
<br />For any mutation you can go to the search (text) and type in the mutation. Then, once you know which Exon the mutation is on, you can go to the CFTR Genes / CFTR Domains page and find where in the formed protein that mutation exists. DF508 is on the NBD1 link (binding domain). If your mutation is on Exon 5, it won't come up from that diagram, but Exon 5 is on MSD1. For some reason the diagram doesn't link to the Exon 5 page... I'm on the team as a patient representative for the CFTR2 project. The plan is to expand the database globally as well as add more information to the specific genotypes. ~Juliet
 
M

MargaritaChic

New member
Ditto to what Rebjane said.

W1282X is a Class I mutation and Delta 508 is a Class II mutation.

My daughter has those same mutations. We are watching the information on PTC124 very closely!
 
M

MargaritaChic

New member
Ditto to what Rebjane said.

W1282X is a Class I mutation and Delta 508 is a Class II mutation.

My daughter has those same mutations. We are watching the information on PTC124 very closely!
 
M

MargaritaChic

New member
Ditto to what Rebjane said.

W1282X is a Class I mutation and Delta 508 is a Class II mutation.

My daughter has those same mutations. We are watching the information on PTC124 very closely!
 
M

MargaritaChic

New member
Ditto to what Rebjane said.

W1282X is a Class I mutation and Delta 508 is a Class II mutation.

My daughter has those same mutations. We are watching the information on PTC124 very closely!
 
M

MargaritaChic

New member
Ditto to what Rebjane said.
<br />
<br />W1282X is a Class I mutation and Delta 508 is a Class II mutation.
<br />
<br />My daughter has those same mutations. We are watching the information on PTC124 very closely!
 
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