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at protein level, in capitals, starting with a letter referring to first the amino acid (one-letter code) affected (e.g. p.T26P) for deletions, duplications or insertions in short tandem repeats, the most 3' nucleotide is arbitrarily assigned as the nucleotide changed a unique identifier should be assigned to each mutation.What happens when a mutation changes a gene's DNA sequence?
When mutation changes a gene’s DNA sequence, you can use a codon look-up table to predict changes to the protein it codes for. Some codon changes are more impactful than others. For example, since multiple codons code for the same amino acid, some mutations will not change the protein.What are the different types of gene mutations?
The following are some of the types of gene mutations that can occur: Tautomerism: This occurs during replication of DNA in the cell nucleus. Tautomers are mismatched pairs of nucleotide bases. Depurination: This is a chemical reaction that happens when the bonds break between the deoxyribose sugar in DNA and the purine base of guanine or adenine.What is a mutation in a gene?
Mutations are of several types. Changes within genes are called point mutations. The simplest kinds are changes to single base pairs, called base-pair substitutions. Many of these substitute an incorrect amino acid in the corresponding position in the encoded protein, and of these a large proportion result in altered protein function.