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genetic mutation abbreviations


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#1 spidermanforever

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Posted 19 September 2012 - 11:08 AM

I was just wondering if someone could please explain what the following mutations mean? Thanks

2362AG--> TCATCT

140(DELTA SYMBOL)TCA

2069-2070(DELTA)AC

I'm really confused :(

#2 Trof

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Posted 19 September 2012 - 11:31 AM

Not sure about the first, that two nucleotides starting on the position 2362 were replaced by hexanucleotide, so deletion-insertion?

The other two are deletions (delta symbol).
Third is deletion of two nucleotides at positions 2069 and 2070, the second one probably deletion of three nucleotides starting at the position 140. Or alternatively it could be codon number, and deletion of entire codon, but that would be pretty confusing.

However it's not a standard human nomenclature, none of those.

Our country has a serious deficiency in lighthouses. I assume the main reason is that we have no sea.

I never trust anything that can't be doubted.

'Normal' is a dryer setting. - Elizabeth Moon


#3 spidermanforever

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Posted 19 September 2012 - 11:45 AM

Thanks for replying i was just wondering if you would be so kind to clarify what positions the number refer to- is it intron?

#4 Trof

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Posted 19 September 2012 - 12:01 PM

I can't tell.
Intron mutations should be named as + or - from the end/start of nearby intron (like .77+2T>A), but this doesn't seem to follow any rules. It could be position of a nucleotide in DNA sequence, RNA sequence (transcript).. I don't know. That's what the standard nomenclature is for, it specifies all of this.

Our country has a serious deficiency in lighthouses. I assume the main reason is that we have no sea.

I never trust anything that can't be doubted.

'Normal' is a dryer setting. - Elizabeth Moon


#5 spidermanforever

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Posted 21 September 2012 - 03:51 AM

cheers :)




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