CF MUTATIONS

Emily65Roses

New member
Since we're bumping it as a useful read, I will add this stuff. Read it at your leisure, it's a lot of scientific mumbo-jumbo... but it explains some of the science behind why stuff doesn't work.

There are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different bases. Every three are read together, to make different amino acids. For example, GTA makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.

Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.

Substitution mutations are when one letter gets changed for another. So GTACGCA could become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.

Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.

There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.

I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.
 

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>

Since we're bumping it as a useful read, I will add this stuff. Read it at your leisure, it's a lot of scientific mumbo-jumbo... but it explains some of the science behind why stuff doesn't work.



There are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different bases. Every three are read together, to make different amino acids. For example, GTA makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.



Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.



Substitution mutations are when one letter gets changed for another. So GTACGCA could become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.



Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.



There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.



I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.</end quote></div>


I have no idea what you said....<img src="i/expressions/face-icon-small-confused.gif" border="0"> BUT it sure as hell sounds impressive. LOL! Only kidding I got the jist of it!
 

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>

Since we're bumping it as a useful read, I will add this stuff. Read it at your leisure, it's a lot of scientific mumbo-jumbo... but it explains some of the science behind why stuff doesn't work.



There are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different bases. Every three are read together, to make different amino acids. For example, GTA makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.



Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.



Substitution mutations are when one letter gets changed for another. So GTACGCA could become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.



Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.



There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.



I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.</end quote></div>


I have no idea what you said....<img src="i/expressions/face-icon-small-confused.gif" border="0"> BUT it sure as hell sounds impressive. LOL! Only kidding I got the jist of it!
 

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>

Since we're bumping it as a useful read, I will add this stuff. Read it at your leisure, it's a lot of scientific mumbo-jumbo... but it explains some of the science behind why stuff doesn't work.



There are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different bases. Every three are read together, to make different amino acids. For example, GTA makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.



Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.



Substitution mutations are when one letter gets changed for another. So GTACGCA could become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.



Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.



There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.



I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.</end quote></div>


I have no idea what you said....<img src="i/expressions/face-icon-small-confused.gif" border="0"> BUT it sure as hell sounds impressive. LOL! Only kidding I got the jist of it!
 
M

Mommafirst

Guest
Question for someone -- Maybe Allie?

Are all missense mutations class 2?

I know my daughter has W1282X which is a class one nonsense mutation.
but her second mutation Y1032C is not classed according to my geneticist. I believe I read that it is a missense mutation, but it usually associated with Pancreatic Sufficiency and the original case study was done on a 32 yo male diagnosed only due to CBAVD. So would that make it a class 4 or 5 instead?

Just wondering if anyone knows.

Thanks
 
M

Mommafirst

Guest
Question for someone -- Maybe Allie?

Are all missense mutations class 2?

I know my daughter has W1282X which is a class one nonsense mutation.
but her second mutation Y1032C is not classed according to my geneticist. I believe I read that it is a missense mutation, but it usually associated with Pancreatic Sufficiency and the original case study was done on a 32 yo male diagnosed only due to CBAVD. So would that make it a class 4 or 5 instead?

Just wondering if anyone knows.

Thanks
 
M

Mommafirst

Guest
Question for someone -- Maybe Allie?

Are all missense mutations class 2?

I know my daughter has W1282X which is a class one nonsense mutation.
but her second mutation Y1032C is not classed according to my geneticist. I believe I read that it is a missense mutation, but it usually associated with Pancreatic Sufficiency and the original case study was done on a 32 yo male diagnosed only due to CBAVD. So would that make it a class 4 or 5 instead?

Just wondering if anyone knows.

Thanks
 

mom2lillian

New member
If anyone ever comes across info on P67L I woudl love to hear it, in 1998 it was identified for the first time (I was dx symptomatically before that) and it is classified as only the 5th confirmed mutation inferring a 'dominant mild effect' anyway I have never been able to figure out if it is a 4 or 5 and as there were only 13 people at the last article I can find having been documented as having it I dont imagine there is alto out there. Let me know if you run across anytthing as that woudl be great. I also have a degree in biomedical science so I would love to see the actual articles thanks. There is one other lady on the boards with P67L (SUnflower) I am sure she woudl love infoa s well.

Thankx
 

mom2lillian

New member
If anyone ever comes across info on P67L I woudl love to hear it, in 1998 it was identified for the first time (I was dx symptomatically before that) and it is classified as only the 5th confirmed mutation inferring a 'dominant mild effect' anyway I have never been able to figure out if it is a 4 or 5 and as there were only 13 people at the last article I can find having been documented as having it I dont imagine there is alto out there. Let me know if you run across anytthing as that woudl be great. I also have a degree in biomedical science so I would love to see the actual articles thanks. There is one other lady on the boards with P67L (SUnflower) I am sure she woudl love infoa s well.

Thankx
 

mom2lillian

New member
If anyone ever comes across info on P67L I woudl love to hear it, in 1998 it was identified for the first time (I was dx symptomatically before that) and it is classified as only the 5th confirmed mutation inferring a 'dominant mild effect' anyway I have never been able to figure out if it is a 4 or 5 and as there were only 13 people at the last article I can find having been documented as having it I dont imagine there is alto out there. Let me know if you run across anytthing as that woudl be great. I also have a degree in biomedical science so I would love to see the actual articles thanks. There is one other lady on the boards with P67L (SUnflower) I am sure she woudl love infoa s well.

Thankx
 

Jennifer1981

New member
This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.
 

Jennifer1981

New member
This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.
 

Jennifer1981

New member
This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.
 

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jennifer1981</b></i>

This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.</end quote></div>

Some people say there is no reason to know this. I personally am an advocate of it no matter what age the CFer is. Its like knowing your blood type etc. You never know when that info might come in handy or even be necessary. I say ASK!
 

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jennifer1981</b></i>

This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.</end quote></div>

Some people say there is no reason to know this. I personally am an advocate of it no matter what age the CFer is. Its like knowing your blood type etc. You never know when that info might come in handy or even be necessary. I say ASK!
 

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jennifer1981</b></i>

This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.</end quote></div>

Some people say there is no reason to know this. I personally am an advocate of it no matter what age the CFer is. Its like knowing your blood type etc. You never know when that info might come in handy or even be necessary. I say ASK!
 

wanderlost

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>

Since we're bumping it as a useful read, I will add this stuff. Read it at your leisure, it's a lot of scientific mumbo-jumbo... but it explains some of the science behind why stuff doesn't work.



There are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different bases. Every three are read together, to make different amino acids. For example, GTA makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.



Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.



Substitution mutations are when one letter gets changed for another. So GTACGCA could become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.



Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.



There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.



I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.</end quote></div>

bumping this up - so what then is a missense mutation??
 

wanderlost

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>

Since we're bumping it as a useful read, I will add this stuff. Read it at your leisure, it's a lot of scientific mumbo-jumbo... but it explains some of the science behind why stuff doesn't work.



There are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different bases. Every three are read together, to make different amino acids. For example, GTA makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.



Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.



Substitution mutations are when one letter gets changed for another. So GTACGCA could become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.



Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.



There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.



I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.</end quote></div>

bumping this up - so what then is a missense mutation??
 

wanderlost

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>

Since we're bumping it as a useful read, I will add this stuff. Read it at your leisure, it's a lot of scientific mumbo-jumbo... but it explains some of the science behind why stuff doesn't work.



There are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different bases. Every three are read together, to make different amino acids. For example, GTA makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.



Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.



Substitution mutations are when one letter gets changed for another. So GTACGCA could become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.



Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.



There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.



I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.</end quote></div>

bumping this up - so what then is a missense mutation??
 

Emily65Roses

New member
According to what I just looked up <a target=_blank class=ftalternatingbarlinklarge href="http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html">on this page</a>, a missense mutation is the same as the ones I called "substitution" mutations. Anything that changes one letter for another.
 
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