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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4615998
- author
- 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
- organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Molecular Genetics & Genomic Medicine
- volume
- 2
- issue
- 4
- pages
- 352 - 355
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:25077178
- pmid:25077178
- scopus:85063921514
- 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
- 2016-04-04 09:21:28
- date last changed
- 2022-01-29 17:27:43
@article{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 = {{John Wiley & Sons Inc.}},
series = {{Molecular Genetics & Genomic Medicine}},
title = {{Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.}},
url = {{https://lup.lub.lu.se/search/files/5302484/7865102}},
doi = {{10.1002/mgg3.80}},
volume = {{2}},
year = {{2014}},
}