LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Korean
Study Design
3 SNPs in the coding region were analyzed in 85 Korean centenarians and in 106 Korean controls
Conclusions
The CAT haplotype (C670, A676 and T1172) frequency was significantly higher in the centenarians than in the controls

Variants (3)

1.
Identifier
C670
Cytogenetic Location
3p22.2
UCSC Genome Browser
View 3p22.2 on the UCSC genome browser
2.
Identifier
A676
Cytogenetic Location
3p22.2
UCSC Genome Browser
View 3p22.2 on the UCSC genome browser
3.
Identifier
T1172
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

Kim et al. (2006)

Other variants which are also part of this study