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GlossaryMissense Mutation (missense change)

single nucleotide change alters one amino acid in a protein

A missense mutation is a type of genetic alteration where a single nucleotide change results in the substitution of one amino acid for another in the protein produced by a gene. This can affect the protein's function, potentially leading to diseases or conditions, such as certain forms of alopecia, where hair loss occurs due to disrupted protein function in hair follicles.

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research Genome-Wide Detection of RNA Editing Events During the Hair Follicles Cycle of Tianzhu White Yak

October 2022 in “BMC genomics”

RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.

research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

3 citations , October 2021 in “Turkish Journal Of Neurology”

Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.

research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

June 2024 in “Genes”

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters

1 citations , May 2023 in “European Journal of Human Genetics”

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity

65 citations , September 2014 in “Orphanet Journal of Rare Diseases”

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

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