Talk:Synonymous substitution

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Untitled[edit]

This article should be updated. I'm glad it's here. But studies are now showing that synonymous mutations quite possibly be harmful, opposed to the assumption that they are neutral. Prof. Lawrence Hurst (University of Bath) has showed that some diseases owe their thanks to synonymous mutations. --jorgekluney.

Substitutions vs mutations[edit]

This section is unsourced and certainly wrong. The term mutation is used to indicate any kind of change in the DNA sequence, including insertions and deletions and more broadly the effect of this changes (missense mutation, gain-of-function mutation). Substitution is the term for a single base-pair exchange [1]. Differences in sequence within populations are SNPs. Note that NCBI's SNP repository [2] contains also insertion and deletion polymorphisms, but use SNP to indicate true single nucleotide substitutions. I'll leave it as it is, in case there is a source for the original statement 24.255.35.103 (talk) 21:19, 23 February 2010 (UTC)[reply]

I don't think it is wrong. There might be a terminology conflict between sub-fields though. A possible source is the "Terminology and Style Conventions" of the author instructions for the journal Molecular Biology and Evolution: "A mutation generally occurs in a single individual and gives rise to an allele. If an allele achieves some frequency in a population it can be referred to as a polymorphism (not a "common [or rare] mutation"). If it has become fixed in a population it may be referred to as a substitution." I think this is the distinction the paragraph is talking about. Manbeargore (talk) 20:07, 6 February 2011 (UTC)[reply]