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

Dominguez, Mev LU ; Drost, Mark; Therkildsen, Christina LU ; Rambech, Eva LU ; Ehrencrona, Hans LU ; Angleys, Maria; Lau Hansen, Thomas; de Wind, Niels; Nilbert, Mef LU and Juel Rasmussen, Lene (2014) In Molecular Genetics & Genomic Medicine 2(4). p.352-355
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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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Molecular Genetics & Genomic Medicine
volume
2
issue
4
pages
352 - 355
publisher
John Wiley & Sons
external identifiers
  • PMID:25077178
ISSN
2324-9269
DOI
10.1002/mgg3.80
language
English
LU publication?
yes
id
4d623e4e-d78b-4a3b-95eb-2617dc8dc67a (old id 4615998)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/25077178?dopt=Abstract
date added to LUP
2014-09-02 18:37:18
date last changed
2016-09-20 03:33:25
@misc{4d623e4e-d78b-4a3b-95eb-2617dc8dc67a,
  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.},
  author       = {Dominguez, Mev and Drost, Mark and Therkildsen, Christina and Rambech, Eva and Ehrencrona, Hans and Angleys, Maria and Lau Hansen, Thomas and de Wind, Niels and Nilbert, Mef and Juel Rasmussen, Lene},
  issn         = {2324-9269},
  language     = {eng},
  number       = {4},
  pages        = {352--355},
  publisher    = {ARRAY(0x94e8888)},
  series       = {Molecular Genetics & Genomic Medicine},
  title        = {Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.},
  url          = {http://dx.doi.org/10.1002/mgg3.80},
  volume       = {2},
  year         = {2014},
}