Df508/Q1330E

J

JennifersHope

New member
Genetic results in I have DF508 and Q1330E..

So far we have been able to find little to no information on that.. Anyone have it? anyone know where I can get accurate information on it?

Lord I really expected them to find nothing so I am stunned yet we don't know what it means...
 
J

JennifersHope

New member
Genetic results in I have DF508 and Q1330E..

So far we have been able to find little to no information on that.. Anyone have it? anyone know where I can get accurate information on it?

Lord I really expected them to find nothing so I am stunned yet we don't know what it means...
 
J

JennifersHope

New member
Genetic results in I have DF508 and Q1330E..
<br />
<br />So far we have been able to find little to no information on that.. Anyone have it? anyone know where I can get accurate information on it?
<br />
<br />Lord I really expected them to find nothing so I am stunned yet we don't know what it means...
 
A

alegris

Guest
Hi,

Check out this website:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/SearchPage.html
">http://www.genet.sickkids.on.ca/cftr/SearchPage.html
</a>
Your specific mutation isn't in there but there are a few that are close (like Q1352E):

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/SearchPage,$Form.direct
">http://www.genet.sickkids.on.c...archPage,$Form.direct
</a>
Look under "legacy name." I think the 'consequence' of your mutation would be 'Gln to Glu at 1330' which probably means something along the lines of a rearrangement of the amino acid at position 1330, therefore messing up the CFTR protein and causing CF. This website really puts it into perspective how many mutations there are and how a tiny little thing like an amino acid in the wrong place can have such huge consequences.
 
A

alegris

Guest
Hi,

Check out this website:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/SearchPage.html
">http://www.genet.sickkids.on.ca/cftr/SearchPage.html
</a>
Your specific mutation isn't in there but there are a few that are close (like Q1352E):

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/SearchPage,$Form.direct
">http://www.genet.sickkids.on.c...archPage,$Form.direct
</a>
Look under "legacy name." I think the 'consequence' of your mutation would be 'Gln to Glu at 1330' which probably means something along the lines of a rearrangement of the amino acid at position 1330, therefore messing up the CFTR protein and causing CF. This website really puts it into perspective how many mutations there are and how a tiny little thing like an amino acid in the wrong place can have such huge consequences.
 
A

alegris

Guest
Hi,
<br />
<br />Check out this website:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/SearchPage.html
">http://www.genet.sickkids.on.ca/cftr/SearchPage.html
</a><br />
<br />Your specific mutation isn't in there but there are a few that are close (like Q1352E):
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/SearchPage,$Form.direct
">http://www.genet.sickkids.on.c...archPage,$Form.direct
</a><br />
<br />Look under "legacy name." I think the 'consequence' of your mutation would be 'Gln to Glu at 1330' which probably means something along the lines of a rearrangement of the amino acid at position 1330, therefore messing up the CFTR protein and causing CF. This website really puts it into perspective how many mutations there are and how a tiny little thing like an amino acid in the wrong place can have such huge consequences.
 
M

microgirl

New member
Hi there,

After reviewing a few clone collections, it appears to be a mutation in NBD2 (or nucleotide binding domain 2) of the CFTR gene. It results in a partial protein. ATP binding/hydrolysis occurs at these nucleotide-binding domains. There are two nucleotide binding domains (NBD1 and NBD2) ATP binding and hydrolysis at NBD2 are key for normal gating.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pnas.org/content/102/2/455.full.pdf+html
">http://www.pnas.org/content/102/2/455.full.pdf+html
</a>
Hope this helps!
 
M

microgirl

New member
Hi there,

After reviewing a few clone collections, it appears to be a mutation in NBD2 (or nucleotide binding domain 2) of the CFTR gene. It results in a partial protein. ATP binding/hydrolysis occurs at these nucleotide-binding domains. There are two nucleotide binding domains (NBD1 and NBD2) ATP binding and hydrolysis at NBD2 are key for normal gating.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pnas.org/content/102/2/455.full.pdf+html
">http://www.pnas.org/content/102/2/455.full.pdf+html
</a>
Hope this helps!
 
M

microgirl

New member
Hi there,
<br />
<br />After reviewing a few clone collections, it appears to be a mutation in NBD2 (or nucleotide binding domain 2) of the CFTR gene. It results in a partial protein. ATP binding/hydrolysis occurs at these nucleotide-binding domains. There are two nucleotide binding domains (NBD1 and NBD2) ATP binding and hydrolysis at NBD2 are key for normal gating.
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.pnas.org/content/102/2/455.full.pdf+html
">http://www.pnas.org/content/102/2/455.full.pdf+html
</a><br />
<br />Hope this helps!
 
J

JennifersHope

New member
Well I am an RN and I have no idea what you are talking about so please explain in dummy terms.. does that mean disease causing or not??? LOL
 
J

JennifersHope

New member
Well I am an RN and I have no idea what you are talking about so please explain in dummy terms.. does that mean disease causing or not??? LOL
 
J

JennifersHope

New member
Well I am an RN and I have no idea what you are talking about so please explain in dummy terms.. does that mean disease causing or not??? LOL
 
J

JennifersHope

New member
I hope so because I am totally stumped.. I can't find anything on it.. I am hoping it is just a normal varient... I am going with that for now.. I am sure it is normal, it has to be.. I was reading about a name of a normal varient that starts with M.. Maybe this is like that... It could be.. I was excited that it had a 9 t after it.. till I saw that so does the DF508.. so you can think with me it is normal okay???

Thanks
 
J

JennifersHope

New member
I hope so because I am totally stumped.. I can't find anything on it.. I am hoping it is just a normal varient... I am going with that for now.. I am sure it is normal, it has to be.. I was reading about a name of a normal varient that starts with M.. Maybe this is like that... It could be.. I was excited that it had a 9 t after it.. till I saw that so does the DF508.. so you can think with me it is normal okay???

Thanks
 
J

JennifersHope

New member
I hope so because I am totally stumped.. I can't find anything on it.. I am hoping it is just a normal varient... I am going with that for now.. I am sure it is normal, it has to be.. I was reading about a name of a normal varient that starts with M.. Maybe this is like that... It could be.. I was excited that it had a 9 t after it.. till I saw that so does the DF508.. so you can think with me it is normal okay???
<br />
<br />Thanks
 
H

hmw

New member
What has a 9t after it- one of your mutations? What exactly does the report say? [Asking because mutations can be affected by whether or not someone has 5/7/9t variants, so if that information is included with mutation names, it's important.]

I hope Steve can help you out... I'm sorry you are left with not knowing much about your results. Would your dr be of any help?
 
H

hmw

New member
What has a 9t after it- one of your mutations? What exactly does the report say? [Asking because mutations can be affected by whether or not someone has 5/7/9t variants, so if that information is included with mutation names, it's important.]

I hope Steve can help you out... I'm sorry you are left with not knowing much about your results. Would your dr be of any help?
 
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