Mutation Type

Technical name
pu_mutation_type
Contributor(s)
Publication date

Oct 3, 2025

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Public
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Description

Controlled vocabulary of mutation types observed in DNA, RNA, or proteins.

Predefined tag values (10)

ValueShort descriptionAdditional infoStatus
Missense mutation
Substitution that changes amino acid sequence
category :  Protein effect :  nonsynonymous
Active
Substitution
Replacement of one base with another
category :  DNA effect :  synonymous/nonsynonymous
Active
Insertion
Addition of one or more nucleotides
category :  DNA effect :  frameshift
Active
Deletion
Removal of one or more nucleotides
category :  DNA effect :  frameshift
Active
Silent mutation
Substitution that does not change amino acid (synonymous)
category :  Protein effect :  synonymous
Active
Nonsense mutation
Substitution that creates a premature stop codon
category :  Protein effect :  loss_of_function
Active
Translocation
Exchange of DNA segments between non-homologous chromosomes
category :  Structural effect :  neutral
Active
Inversion
Reversal of orientation of a DNA segment
category :  Structural effect :  neutral
Active
Fusion
Joining of two separate genes into one fusion gene
category :  Structural effect :  gain_of_function
Active
Duplication
Repetition of a DNA segment
category :  DNA effect :  gain_of_function
Active

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