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GlossaryMissense Mutation

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 Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation

November 2022 in “Frontiers in pediatrics”

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient

research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient

13 citations, November 2009 in “Journal of Dermatological Science”

A gene mutation causes woolly hair in a Syrian patient.

Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Long Hair in the Maine Coon Cat

research Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Long Hair in the Maine Coon Cat

2 citations, June 2021 in “Research Square (Research Square)”

A new gene mutation causes long hair in some Maine Coon cats.

Genome-Wide Association Study Identifies Variants Associated With Hair Length in Brangus Cattle

research Genome-Wide Association Study Identifies Variants Associated With Hair Length in Brangus Cattle

9 citations, June 2020 in “Animal genetics”

Scientists found genes linked to hair length in Brangus cattle that could help breed heat-tolerant cattle.

Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

11 citations, January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

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