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Mutations 101

M

mamaScarlett

Active member
I remember my genetic counselor explaining to me that certain mutations affect specific amino acids-example, df508 inhibits phenylanine.
Anyone remember any details on this? I'm curious to see which amino acid my rare mutation, G551S, changes.
 
M

mamaScarlett

Active member
I remember my genetic counselor explaining to me that certain mutations affect specific amino acids-example, df508 inhibits phenylanine.
Anyone remember any details on this? I'm curious to see which amino acid my rare mutation, G551S, changes.
 
M

mamaScarlett

Active member
I remember my genetic counselor explaining to me that certain mutations affect specific amino acids-example, df508 inhibits phenylanine.
Anyone remember any details on this? I'm curious to see which amino acid my rare mutation, G551S, changes.
 
M

mamaScarlett

Active member
I remember my genetic counselor explaining to me that certain mutations affect specific amino acids-example, df508 inhibits phenylanine.
Anyone remember any details on this? I'm curious to see which amino acid my rare mutation, G551S, changes.
 
M

mamaScarlett

Active member
I remember my genetic counselor explaining to me that certain mutations affect specific amino acids-example, df508 inhibits phenylanine.
<br />Anyone remember any details on this? I'm curious to see which amino acid my rare mutation, G551S, changes.
<br />
<br />
 
A

alegris

Guest
Here's what I found on the CF mutation database:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=268
">http://www.genet.sickkids.on.c...lPage.external?sp=268
</a>
If the link doesn't work, basically what is says is, "glycine to serine at 551." G is glycine and S is serine (amino acids). I think what it's saying is G and S are reversed at position 551 on the gene? Maybe? But ya, Steven Kiles would know more what it means.
 
A

alegris

Guest
Here's what I found on the CF mutation database:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=268
">http://www.genet.sickkids.on.c...lPage.external?sp=268
</a>
If the link doesn't work, basically what is says is, "glycine to serine at 551." G is glycine and S is serine (amino acids). I think what it's saying is G and S are reversed at position 551 on the gene? Maybe? But ya, Steven Kiles would know more what it means.
 
A

alegris

Guest
Here's what I found on the CF mutation database:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=268
">http://www.genet.sickkids.on.c...lPage.external?sp=268
</a>
If the link doesn't work, basically what is says is, "glycine to serine at 551." G is glycine and S is serine (amino acids). I think what it's saying is G and S are reversed at position 551 on the gene? Maybe? But ya, Steven Kiles would know more what it means.
 
A

alegris

Guest
Here's what I found on the CF mutation database:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=268
">http://www.genet.sickkids.on.c...lPage.external?sp=268
</a>
If the link doesn't work, basically what is says is, "glycine to serine at 551." G is glycine and S is serine (amino acids). I think what it's saying is G and S are reversed at position 551 on the gene? Maybe? But ya, Steven Kiles would know more what it means.
 
A

alegris

Guest
Here's what I found on the CF mutation database:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=268
">http://www.genet.sickkids.on.c...lPage.external?sp=268
</a><br />
<br />If the link doesn't work, basically what is says is, "glycine to serine at 551." G is glycine and S is serine (amino acids). I think what it's saying is G and S are reversed at position 551 on the gene? Maybe? But ya, Steven Kiles would know more what it means.
 
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