Q493X anyone?

[bubble2]

My daughter has just had this identified as her second mutation ( after waiting for 3 years! ) She also has DF508

I can't find out anything about Q493X except that it is rare and PI. If anyone has any more information I'd be really grateful

 

[bubble2]

My daughter has just had this identified as her second mutation ( after waiting for 3 years! ) She also has DF508

I can't find out anything about Q493X except that it is rare and PI. If anyone has any more information I'd be really grateful

 

[bubble2]

My daughter has just had this identified as her second mutation ( after waiting for 3 years! ) She also has DF508
<br />
<br />I can't find out anything about Q493X except that it is rare and PI. If anyone has any more information I'd be really grateful

 

[Mommafirst]

I don't know anything about this one particularly, but I do know that all mutations that have the X at the end are considered stop mutations. They are class I mutations that keeps the protein from being produced because the mutation can't read through.

The combination of a class I (Q493X) and a class II (DF508) would be a classic CF.

The good news that you know this is that in addition to the Vertex drugs that seek to fix the DF508 and are very promising right now, the other one is the target of the drug atalauren (formerly PTC124) and seeks to fix the X stop mutations.

So there is lots of hope to be had here.

 

[Mommafirst]

I don't know anything about this one particularly, but I do know that all mutations that have the X at the end are considered stop mutations. They are class I mutations that keeps the protein from being produced because the mutation can't read through.

The combination of a class I (Q493X) and a class II (DF508) would be a classic CF.

The good news that you know this is that in addition to the Vertex drugs that seek to fix the DF508 and are very promising right now, the other one is the target of the drug atalauren (formerly PTC124) and seeks to fix the X stop mutations.

So there is lots of hope to be had here.

 

[Mommafirst]

I don't know anything about this one particularly, but I do know that all mutations that have the X at the end are considered stop mutations. They are class I mutations that keeps the protein from being produced because the mutation can't read through.
<br />
<br />The combination of a class I (Q493X) and a class II (DF508) would be a classic CF.
<br />
<br />The good news that you know this is that in addition to the Vertex drugs that seek to fix the DF508 and are very promising right now, the other one is the target of the drug atalauren (formerly PTC124) and seeks to fix the X stop mutations.
<br />
<br />So there is lots of hope to be had here.

 

[bubble2]

Thanks for the reply! and yes I am quite cheered by the fact that it is a stop mutation - at least it may give more options for treatment in the future.
Even if it's not the news we wanted at least these days I think it is better to know your mutations than not

 

[bubble2]

Thanks for the reply! and yes I am quite cheered by the fact that it is a stop mutation - at least it may give more options for treatment in the future.
Even if it's not the news we wanted at least these days I think it is better to know your mutations than not

 

[bubble2]

Thanks for the reply! and yes I am quite cheered by the fact that it is a stop mutation - at least it may give more options for treatment in the future.
<br /> Even if it's not the news we wanted at least these days I think it is better to know your mutations than not