LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Danish
Study Design
592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions
The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Identifier
rs13320360
In Other Studies (IDs)
272
Cytogenetic Location
3p22.2
UCSC Genome Browser
View 3p22.2 on the UCSC genome browser

Gene details

HGNC symbol
MLH1
Aliases
FCC2; COCA2; HNPCC; hMLH1; HNPCC2 
Common name
mutL homolog 1 
Description
This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
Other longevity studies of this gene
8
OMIM
120436
Ensembl
ENSG00000076242
UniProt/Swiss-Prot
A0A024R2S9_HUMAN
Entrez Gene
4292
UniGene
195364
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
mlh-1
Danio rerio
mlh1
Drosophila melanogaster
Mlh1
Mus musculus
Mlh1
Rattus norvegicus
Mlh1
Saccharomyces cerevisiae
MLH1
Schizosaccharomyces pombe
mlh1

In other databases

GenAge human genes
  • This gene is present as MLH1

References

Debrabant et al. (2014)

Other variants which are also part of this study