JamBot: site:www.hgvs.org activated amino

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HGVS recommendations: AA examples

http://www.hgvs.org/mutnomen/examplesAA.html

termination codon; for clarity this page describes changes using the three-letter amino acid amino acid numbering

HGVS recommendations: protein sequence variants

http://www.hgvs.org/mutnomen/recs-prot.html

the entire protein coding sequence p.Trp182_Gln183ins17 describes a variant that inserts 17 amino acids between amino acids

Mutation

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Mutations result from errors during replication, mitosis, meiosis, or damage to DNA, which then may trigger error-prone repair or cause an error during replication (translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism.

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