Df508/Q1330E

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.]
<br />
<br />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?
 

JennifersHope

New member
Oh I know my doctors will be of help.. I just won't be able to talk to them about it for a few days..
The Q1330E had a 9T after it... It depends on the mutation or not to determine if the 9T is important or not

I am praying Steve gets back to me .. I emailed him too..
 

JennifersHope

New member
Oh I know my doctors will be of help.. I just won't be able to talk to them about it for a few days..
The Q1330E had a 9T after it... It depends on the mutation or not to determine if the 9T is important or not

I am praying Steve gets back to me .. I emailed him too..
 

JennifersHope

New member
Oh I know my doctors will be of help.. I just won't be able to talk to them about it for a few days..
<br />The Q1330E had a 9T after it... It depends on the mutation or not to determine if the 9T is important or not
<br />
<br />I am praying Steve gets back to me .. I emailed him too..
 

microgirl

New member
Sorry, I just had a few minutes to do a quick search, and realize now I was in teacher mode (to an advanced graduate level genetics class) when I gave my response. Please forgive me! Although I am a molecular microbiologist, I am not an expert, and from what I read last night even the experts do not agree on the importance of two normal NBDs. Let me see if I can explain, these NBD's are where the ATP binds and allows the opening and closing of the channel, thus allowing normal transport across the membrane. Because there are two of them, some researchers have found that as long as one of them is in tact, the ATP can bind, then gating (opening and closing of the channel) can occur as it normally does. So it appears as though it may not have any effect and is a benign mutation. HOWEVER, some of the literature I read disagrees with this. So little is really known and no one agrees on the importance of two in tact NBDs! But there is hope from what I have read! I apologize for not having a definitive yes or no answer, but your doctors or Steve will probably have the answer you are looking for! I hope you do not have to wait to long!!
 

microgirl

New member
Sorry, I just had a few minutes to do a quick search, and realize now I was in teacher mode (to an advanced graduate level genetics class) when I gave my response. Please forgive me! Although I am a molecular microbiologist, I am not an expert, and from what I read last night even the experts do not agree on the importance of two normal NBDs. Let me see if I can explain, these NBD's are where the ATP binds and allows the opening and closing of the channel, thus allowing normal transport across the membrane. Because there are two of them, some researchers have found that as long as one of them is in tact, the ATP can bind, then gating (opening and closing of the channel) can occur as it normally does. So it appears as though it may not have any effect and is a benign mutation. HOWEVER, some of the literature I read disagrees with this. So little is really known and no one agrees on the importance of two in tact NBDs! But there is hope from what I have read! I apologize for not having a definitive yes or no answer, but your doctors or Steve will probably have the answer you are looking for! I hope you do not have to wait to long!!
 

microgirl

New member
Sorry, I just had a few minutes to do a quick search, and realize now I was in teacher mode (to an advanced graduate level genetics class) when I gave my response. Please forgive me! Although I am a molecular microbiologist, I am not an expert, and from what I read last night even the experts do not agree on the importance of two normal NBDs. Let me see if I can explain, these NBD's are where the ATP binds and allows the opening and closing of the channel, thus allowing normal transport across the membrane. Because there are two of them, some researchers have found that as long as one of them is in tact, the ATP can bind, then gating (opening and closing of the channel) can occur as it normally does. So it appears as though it may not have any effect and is a benign mutation. HOWEVER, some of the literature I read disagrees with this. So little is really known and no one agrees on the importance of two in tact NBDs! But there is hope from what I have read! I apologize for not having a definitive yes or no answer, but your doctors or Steve will probably have the answer you are looking for! I hope you do not have to wait to long!!
 

JennifersHope

New member
Thank you , I had a feeling the answer would be inclusive. That is just the way my life goes....

Thanks for taking the time.. Hopefully I will get some answers soon.
 

JennifersHope

New member
Thank you , I had a feeling the answer would be inclusive. That is just the way my life goes....

Thanks for taking the time.. Hopefully I will get some answers soon.
 

JennifersHope

New member
Thank you , I had a feeling the answer would be inclusive. That is just the way my life goes....
<br />
<br />Thanks for taking the time.. Hopefully I will get some answers soon.
 

JennifersHope

New member
Thank you so much.. Microgirl, where did you get the information that my gene fits into that catagory?? That is what I am trying to figure out now..

I totally understand what you are saying, to me it would seem that this gene would fit somewhere in a Class 4 since the gene is not totally broken but rather slighltly defective..

I just don't see where q1330e is for sure in that class?? Thank you for your help.. Ambry genetics said that his gene is very rare and could not offer any other advice since they have not seen it before.
 

JennifersHope

New member
Thank you so much.. Microgirl, where did you get the information that my gene fits into that catagory?? That is what I am trying to figure out now..

I totally understand what you are saying, to me it would seem that this gene would fit somewhere in a Class 4 since the gene is not totally broken but rather slighltly defective..

I just don't see where q1330e is for sure in that class?? Thank you for your help.. Ambry genetics said that his gene is very rare and could not offer any other advice since they have not seen it before.
 

JennifersHope

New member
Thank you so much.. Microgirl, where did you get the information that my gene fits into that catagory?? That is what I am trying to figure out now..
<br />
<br />I totally understand what you are saying, to me it would seem that this gene would fit somewhere in a Class 4 since the gene is not totally broken but rather slighltly defective..
<br />
<br />I just don't see where q1330e is for sure in that class?? Thank you for your help.. Ambry genetics said that his gene is very rare and could not offer any other advice since they have not seen it before.
 

microgirl

New member
Hi again,
Arizona State University's Biodesign program has a website that lists all of their clones.
<a target=_blank class=ftalternatingbarlinklarge href="http://dnasu.asu.edu/DNASU/GetCloneDetail.do?cloneid=287350
">http://dnasu.asu.edu/DNASU/Get...ail.do?cloneid=287350
</a>If you scroll down a bit to insert 1 and then down a bit further Coding Sequence Location, Mutations, and Discrepancies: Insert 1 you will see the Q1330E mutation listed. You will also see that the domain for this mutation,as well as the others listed,is the NBD2. I have worked with various ATP-binding cassettes,as is the region of the gene affected by your mutation, but not in the CFTR gene. From there you can do a Google scholar search for mutations in the NBD2, and you will get several articles that explain what I have previously stated above about their being two ATP binding domains, etc. These research articles can be pretty heavy, so if you come across one you need help interpreting, let me know, I will try to help as best I can...science speak can be ridiculous!
Hope this helps!
 

microgirl

New member
Hi again,
Arizona State University's Biodesign program has a website that lists all of their clones.
<a target=_blank class=ftalternatingbarlinklarge href="http://dnasu.asu.edu/DNASU/GetCloneDetail.do?cloneid=287350
">http://dnasu.asu.edu/DNASU/Get...ail.do?cloneid=287350
</a>If you scroll down a bit to insert 1 and then down a bit further Coding Sequence Location, Mutations, and Discrepancies: Insert 1 you will see the Q1330E mutation listed. You will also see that the domain for this mutation,as well as the others listed,is the NBD2. I have worked with various ATP-binding cassettes,as is the region of the gene affected by your mutation, but not in the CFTR gene. From there you can do a Google scholar search for mutations in the NBD2, and you will get several articles that explain what I have previously stated above about their being two ATP binding domains, etc. These research articles can be pretty heavy, so if you come across one you need help interpreting, let me know, I will try to help as best I can...science speak can be ridiculous!
Hope this helps!
 

microgirl

New member
Hi again,
<br />Arizona State University's Biodesign program has a website that lists all of their clones.
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://dnasu.asu.edu/DNASU/GetCloneDetail.do?cloneid=287350
">http://dnasu.asu.edu/DNASU/Get...ail.do?cloneid=287350
</a><br />If you scroll down a bit to insert 1 and then down a bit further Coding Sequence Location, Mutations, and Discrepancies: Insert 1 you will see the Q1330E mutation listed. You will also see that the domain for this mutation,as well as the others listed,is the NBD2. I have worked with various ATP-binding cassettes,as is the region of the gene affected by your mutation, but not in the CFTR gene. From there you can do a Google scholar search for mutations in the NBD2, and you will get several articles that explain what I have previously stated above about their being two ATP binding domains, etc. These research articles can be pretty heavy, so if you come across one you need help interpreting, let me know, I will try to help as best I can...science speak can be ridiculous!
<br />Hope this helps!
 

JennifersHope

New member
THank you so very much for your help.. I still have not heard from my own center, but I did hear from my center in NJ and it appears it is a disease causing mutation....

So there you go, Back to the orginal dx I guess.. I still am waiting to hear from my center....to see what they say..
 

JennifersHope

New member
THank you so very much for your help.. I still have not heard from my own center, but I did hear from my center in NJ and it appears it is a disease causing mutation....

So there you go, Back to the orginal dx I guess.. I still am waiting to hear from my center....to see what they say..
 

JennifersHope

New member
THank you so very much for your help.. I still have not heard from my own center, but I did hear from my center in NJ and it appears it is a disease causing mutation....
<br />
<br />So there you go, Back to the orginal dx I guess.. I still am waiting to hear from my center....to see what they say..
 
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