Question about Mutation Classes

dyza

New member
havn't been able to find this mutation, but, looking at how it is named (2789+2+3insA), I would suggest that it is a class 5 mutation. I found other mutation with a similar name (3849+10kb) that were class 5.
It appears that each class of mutation has a very similar way of numbering its mutations.
class 3. G551D, G551S, G1244E, G1349D
class 4. R117H, R347P, R334W, P574H.
I know this is by no means scientific in my approach, but it may give you a starting point.

craig
 

dyza

New member
havn't been able to find this mutation, but, looking at how it is named (2789+2+3insA), I would suggest that it is a class 5 mutation. I found other mutation with a similar name (3849+10kb) that were class 5.
It appears that each class of mutation has a very similar way of numbering its mutations.
class 3. G551D, G551S, G1244E, G1349D
class 4. R117H, R347P, R334W, P574H.
I know this is by no means scientific in my approach, but it may give you a starting point.

craig
 

Incomudrox

New member
Mutations ending in X i believe have something to do with missing exon's and Premature stop codons but they weren't very consistent when naming them....

If I ever find the HUGO master Nomenclature for CF Gene mutations I'll be sure to post it. I've only found bits and pieces.
 

Incomudrox

New member
Mutations ending in X i believe have something to do with missing exon's and Premature stop codons but they weren't very consistent when naming them....

If I ever find the HUGO master Nomenclature for CF Gene mutations I'll be sure to post it. I've only found bits and pieces.
 

candi81

New member
Thanks dyza! That definitely gives me a starting point! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

candi81

New member
Thanks dyza! That definitely gives me a starting point! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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