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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 Deciphering the Pathogenesis of Central Centrifugal Cicatricial Alopecia

September 2019 in “Journal of Investigative Dermatology”

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

research A Novel Splice Site Mutation in LIPH Identified in a Japanese Patient with Autosomal Recessive Woolly Hair

August 2016 in “Journal of Investigative Dermatology”

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia

12 citations , January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie”

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

50 citations , February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis

11 citations , April 2012 in “Journal of Investigative Dermatology”

A specific mutation in PA-PLA1α causes abnormal hair growth.

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