MLH1 K618A - GET-Evidence

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MLH1 K618A

(MLH1 Lys618Ala)


You are viewing an old version of this page that was saved on September 11, 2013 at 12:53am by N'Djamena Marmon.

Edited in this revision:

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity 4

Mean age of onset between 44 and 61 years, regular screening and colonoscopies recommended as preventative measures.

See 20301390.

Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Kohlmann W, Gruber SB. Lynch Syndrome. 2004 Feb 05 [updated 2012 Sep 20]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from http://www.ncbi.nlm.nih.gov/books/NBK1211/ PubMed PMID: 20301390.

 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the MLH1 gene
    Turcot Syndrome
    Hereditary Non-Polyposis Colon Cancer
    MLH1-Related Hereditary Non-Polyposis Colon Cancer
    MLH1-Related Muir-Torre Syndrome
    MLH1-Related Turcot Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLH1
    Web search results (61 hits -- see all)
  • European Journal of Human Genetics - Assessing the ...
    The MLH1 (K618A) mutant showed a reduced ability to bind PMS2 (Figure 1a) ... The pathogenicity of the remaining 2 MLH1 missense mutations, K618A and Y646C, was uncertain. ...
    www.nature.com/ejhg/journal/v14/n7/full/5201628a.html
  • A Human Cell-Based Assay to Evaluate the Effects of ...
    A low-level expression of two MLH1 polymorphisms partially reversed methylation tolerance and the mutator ... K618A) were all ineffective at reversing the phenotype of the MLH1 ...
    cancerres.aacrjournals.org/cgi/content/full/66/18/9036
  • A Human Cell-Based Assay to Evaluate the Effects of ...
    and K618A) were all ineffective at reversing the phenotype of ... third mutation, K618A (1852-3AA>GC), conferred only a. partial defect in its interaction with MLH1 partners in ...
    cancerres.aacrjournals.org/cgi/reprint/66/18/9036.pdf
  • Assessing the pathogenicity of MLH1 missense mutations in ...
    Approximately 32% of all MLH1 mutations and 18% of MSH2 mutations are missense variants ... The pathogenicity of the K618A and Y646C mutations was questionable ...
    www.ncbi.nlm.nih.gov/pubmed/16724012
  • Aquilina, G (Gabriele)
    Aquilina, G (Gabriele) :: The mammalian mismatch repair pathway removes DNA 8-oxodGMP ... and K618A) were all ineffective at reversing the phenotype of the MLH1-defective A2780 ...
    lib.bioinfo.pl/auid:66757
  • ScholarsArchive at Oregon State University: Phenotypic ...
    Phenotypic analysis of human MLH1 variants for DNA mismatch repair ... K616D and K618A) were incapable of inducing a MLH1-dependent cytotoxic response ...
    ir.library.oregonstate.edu/jspui/handle/1957/7611
  • The effect of genetic background on the function of ...
    ... 28 alleles of baker's yeast MLH1 that correspond to non-truncating human ... has not been reported to occur independently in HNPCC patients, K618A appears to ...
    hmg.oxfordjournals.org/cgi/content/full/16/4/445
  • Wanat et al. 1 Research Article
    MLH1 that correspond to non-truncating human mutant alleles listed in online HNPCC ... HNPCC patients, K618A appears to segregate alone with colorectal cancer in some families ...
    hmg.oxfordjournals.org/cgi/reprint/ddl479v1.pdf
  • Supplemental Figure 1_NEJM_rename
    ... Suthers G, et al. Inheritance of a cancer-associated MLH1 germ-line ... MLH1 exon 16, K618A. Sense (reverse) EPM2AIP, rs9311149. P. a. tien. t A - gDNA. P. a. tien. t A ...
    content.nejm.org/cgi/data/356/7/697/DC1/1
  • Powerpoint
    MLH1, in substrate recognition and / or commitment to initiate repair ... prevention capabilities of the MLH1 mutants E578G, K618A, V716M, and D132H using ...
    oregonstate.edu/dept/biochem/hhmi/.../2004/odonnell.ppt

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

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