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Mutant Allele

Definition
AI-generated

A mutant allele is an allele that differs from a defined wild-type allele because of sequence change; in practice, the term is often used in experimental genetics for alleles with known or suspected functional impact.

Topics
Core genetics
Related
Wild-Type Allele Alternative Allele Derived Allele

Why it matters in GWAS

In association studies, "mutant" is an interpretation-heavy label and is not equivalent to alternative, derived, effect, or risk allele. Clear statistical allele labels are needed for harmonization and effect-direction reporting.

Example usage

"The mutant allele reduced promoter activity in vitro, but the GWAS signal still reflected multiple correlated variants."

Wild-Type Allele Alternative Allele Derived Allele Effect Allele Risk Allele
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Griffiths AJF, et al. (2015). Introduction to Genetic Analysis. W. H. Freeman.
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