Types Of Genetic Variants PDF

Types of Genetic Variants Dr Anna Derrick [email protected]  DNA Nucleotides 4 nucleotides : A, G, T, C Adenine, Guanine, Thymine and Cytosine, Guani...

Types of Genetic Variants Dr Anna Derrick [email protected]  DNA Nucleotides 4 nucleotides : A, G, T, C Adenine, Guanine, Thymine and Cytosine, Guanine binds to Adenine binds to Cytosine Thymine  Genetic Code Three nucleotides (a /T codon) encode for an amino acid /T  Genetic Code The are twenty amino acids which can make up a protein The genetic code is redundant with nucleotide codons being degenerate meaning multiple codons encode for the same amino acids.  Types of Genetic Variants DNA Mutations Substitution/ Insertion/Deletion Point Mutation (InDel) Non-Synonymous Synonymous/ Silent Frameshift In-frame Missense Nonsense  Base substitutions or Point mutations Swapping one nucleotide for another. Purine>Purine or Purine>Pyrimidine or Pyrimidine>Pyrimidine Pyrimidine>Purine = Transition = Transversion  Base substitutions or Point mutations Protein consequences: Or Silent No change to encoded amino acid. Change of encoded Non-Synonymous amino acid to a different amino acid. Change of encoded amino acid to a termination/STOP amino acid resulting in a truncated protein.  Nucleotide Insertions and Deletions (INDELS): Inserting or deleting one or more nucleotides from the DNA sequence. Protein consequences of INDELS: In-frame insertion or deletion. Usually, nucleotides Does not alter the inserted/deleted amino acid reading are in multiples of frame. three. Results in the insertion/deletion of whole amino acids.  Nucleotide Insertions and Deletions (INDELS): Inserting or deleting one or more nucleotides from the DNA sequence. Protein consequences of INDELS: Reading Frame-shift insertion or deletion Alters the amino acid reading frame. Usually, nucleotides are not a multiple of three. Results in a truncated or elongated protein due to the position of the stop codon being affected. Human genetic variation | EMBL-EBI Training