Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.

Mev Dominguez; Mark Drost; Christina Therkildsen; Eva Rambech; Hans Ehrencrona; Maria Angleys; Thomas Lau Hansen; Niels de Wind; Mef Nilbert; Lene Juel Rasmussen

doi:10.1002/mgg3.80

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.

Mev Dominguez, Mark Drost, Christina Therkildsen, Eva Rambech, Hans Ehrencrona, Maria Angleys, Thomas Lau Hansen, Niels de Wind, Mef Nilbert, Lene Juel Rasmussen

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Abstract

In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T>C missense mutation in exon 18 of the human MLH1 gene and biochemically characterization of the p.Cys680Arg mutant MLH1 protein to implicate it in the pathogenicity of the Lynch syndrome (LS). We show that the mutation is deficient in DNA mismatch repair and, therefore, contributing to LS in the carriers.

Original language	English
Pages (from-to)	352-355
Journal	Molecular Genetics & Genomic Medicine
Volume	2
Issue number	4
DOIs	https://doi.org/10.1002/mgg3.80
Publication status	Published - 2014

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Medical Genetics and Genomics (including Gene Therapy)

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10.1002/mgg3.80

wileyopenaccess_dominquez_et_al

http://www.ncbi.nlm.nih.gov/pubmed/25077178?dopt=Abstract

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title = "Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.",

abstract = "In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T>C missense mutation in exon 18 of the human MLH1 gene and biochemically characterization of the p.Cys680Arg mutant MLH1 protein to implicate it in the pathogenicity of the Lynch syndrome (LS). We show that the mutation is deficient in DNA mismatch repair and, therefore, contributing to LS in the carriers.",

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T1 - Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.

AU - Dominguez, Mev

AU - Drost, Mark

AU - Therkildsen, Christina

AU - Rambech, Eva

AU - Ehrencrona, Hans

AU - Angleys, Maria

AU - Lau Hansen, Thomas

AU - de Wind, Niels

AU - Nilbert, Mef

AU - Juel Rasmussen, Lene

PY - 2014

Y1 - 2014

N2 - In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T>C missense mutation in exon 18 of the human MLH1 gene and biochemically characterization of the p.Cys680Arg mutant MLH1 protein to implicate it in the pathogenicity of the Lynch syndrome (LS). We show that the mutation is deficient in DNA mismatch repair and, therefore, contributing to LS in the carriers.

AB - In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T>C missense mutation in exon 18 of the human MLH1 gene and biochemically characterization of the p.Cys680Arg mutant MLH1 protein to implicate it in the pathogenicity of the Lynch syndrome (LS). We show that the mutation is deficient in DNA mismatch repair and, therefore, contributing to LS in the carriers.

U2 - 10.1002/mgg3.80

DO - 10.1002/mgg3.80

M3 - Article

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EP - 355

JO - Molecular Genetics & Genomic Medicine

JF - Molecular Genetics & Genomic Medicine

IS - 4

ER -

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.

Abstract

Subject classification (UKÄ)

UN SDGs

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