Get Non-Synonymous Point Mutations From Cosmicmart
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Entering edit mode
9.0 years ago
antgomo ▴ 30

Hi all,

I'm trying to get non-synonymous point mutations from COSMIC using COSMICMart, however I don't know how to handle it, cos I'm confused about the definition in COSMIC:

Mutation Type
The mutation type is used to describe the type of mutation that has occurred. :
Substitution : A mutation involving the substitution of a single nucleotide.
Substitution - Nonsense : A substitution mutation resulting in a termination codon, foreshortening the translated peptide.
Substitution - Missense : A substitution mutation resulting in an alternate codon, altering the amino acid at this position only.
Substitution - coding silent : A synonymous substitution mutation which encodes the same amino acid as the wild type codon.
Substitution - intronic : A substitution mutation outside the coding domains. No interpretation is made as to its effect on splice sites or nearby regulatory regions.
Insertion : An insertion of novel sequence into the gene.
Insertion - In frame : An insertion of nucleotides which does not affect the gene's translation frame, leaving the downstream peptide sequence intact.
Insertion - Frameshift : An insertion of novel sequence which alters the translation frame, changing the downstream peptide sequence (often resulting in premature termination).
Deletion : A deletion of a portion of the gene's sequence.
Deletion - In frame : A deletion of nucleotides which does not affect the gene's translation frame, leaving the downstream peptide sequence intact.
Deletion - Frameshift : A deletion of nucleotides which alters the translation frame, changing the downstream peptide sequence (often resulting in premature termination).
Complex : A compound mutation which may involve multiple insertions, deletions and substitutions.
Unknown : A mutation with no detailed information available.


I don't what of the characteristics I have to select, probably coding silent, Nonsense, Missense,... any ideas would be helpful

mutation • 2.9k views
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Entering edit mode
8.7 years ago
henryvuong ▴ 810

I think non-synonymous point mutation is also known as missense mutation according to wikipedia (http://en.wikipedia.org/wiki/Mutation#Classificationofmutation_types).