LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Ashkenazi Jewish
Study Design
Next-generation sequencing was employed to identify novel variants in 988 candidate genes in 6 centenarians, revealing 89 novel non-synonymous SNPs. These were genotyped in 410 Ashkenazi Jewish controls and 390 centenarians.
Conclusions
Without correcting for multiple testing, the p.Y318C variant in PMS2 was significantly enriched while the p.V465A variant in GABRR3 was significantly depleted in centenarians

Variants (2)

GABRR3

1.
Identifier
p.V465A
Cytogenetic Location
3q11.2
UCSC Genome Browser
View 3q11.2 on the UCSC genome browser

Gene details

HGNC symbol
GABRR3
Aliases
 
Common name
gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene) 
Description
The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
OMIM
Ensembl
ENSG00000183185
UniProt/Swiss-Prot
GBRR3_HUMAN
Entrez Gene
200959
UniGene
534578
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zgc:194845
Mus musculus
Gabrr3
Rattus norvegicus
Gabrr3

PMS2

1.
Identifier
p.Y318C
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser

Gene details

HGNC symbol
PMS2
Aliases
MLH4; PMSL2; HNPCC4; PMS2CL 
Common name
PMS1 homolog 2, mismatch repair system component 
Description
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
Other longevity studies of this gene
5
OMIM
600259
Ensembl
ENSG00000122512
UniProt/Swiss-Prot
B4DGM0_HUMAN
Entrez Gene
5395
UniGene
632637
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
pms-2
Danio rerio
pms2
Drosophila melanogaster
Pms2
Mus musculus
Pms2
Rattus norvegicus
Pms2
Saccharomyces cerevisiae
PMS1
Schizosaccharomyces pombe
pms1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as PMS1

References

Han et al. (2013)

Other variants which are also part of this study