LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
American
Study Design
A genome-wide linkage scan was performed for healthy aging in family study data, followed by fine-mapping by association in a separate population. A frailty index, called FI34, was introduced as a quantitative measure of healthy aging.
Conclusions
A single linkage peak was found on chromosome 12 in the genome-wide linkage scan. Fine-scale association mapping identified three sites associated with healthy aging in intergenic regions at 12q13-14.

Variants (10)

No gene

1.
Identifier
rs3847663
Cytogenetic Location
12q13-14
UCSC Genome Browser
View 12q13-14 on the UCSC genome browser
2.
Identifier
rs10784033
Cytogenetic Location
12q13-14
UCSC Genome Browser
View 12q13-14 on the UCSC genome browser
3.
Identifier
rs10877403
Cytogenetic Location
12q13-14
UCSC Genome Browser
View 12q13-14 on the UCSC genome browser
4.
Identifier
rs7301866
Cytogenetic Location
12q13-14
UCSC Genome Browser
View 12q13-14 on the UCSC genome browser
5.
Identifier
rs1733676
Cytogenetic Location
12q13-14
UCSC Genome Browser
View 12q13-14 on the UCSC genome browser
6.
Identifier
rs7133474
Cytogenetic Location
12q13-14
UCSC Genome Browser
View 12q13-14 on the UCSC genome browser

EEF1AKMT3

1.
Identifier
rs923829
Cytogenetic Location
12q14.1
UCSC Genome Browser
View 12q14.1 on the UCSC genome browser

Gene details

HGNC symbol
EEF1AKMT3
Aliases
FAM119B; METTL21B 
Common name
EEF1A lysine methyltransferase 3 
Description
OMIM
615258
Ensembl
ENSG00000123427
UniProt/Swiss-Prot
MT21B_HUMAN
Entrez Gene
25895
UniGene
632720
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
C42C1.13
Mus musculus
Mettl21b
Rattus norvegicus
Mettl21b
Saccharomyces cerevisiae
855707

METTL1

1.
Identifier
rs10877013
Cytogenetic Location
12q14.1
UCSC Genome Browser
View 12q14.1 on the UCSC genome browser
2.
Identifier
rs10877015
Cytogenetic Location
12q14.1
UCSC Genome Browser
View 12q14.1 on the UCSC genome browser

Gene details

HGNC symbol
METTL1
Aliases
TRM8; TRMT8; C12orf1; YDL201w 
Common name
methyltransferase like 1 
Description
This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
604466
Ensembl
ENSG00000037897
UniProt/Swiss-Prot
TRMB_HUMAN
Entrez Gene
4234
UniGene
42957
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
W02B12.10
Danio rerio
mettl1
Drosophila melanogaster
CG4045
Mus musculus
Mettl1
Rattus norvegicus
Mettl1
Saccharomyces cerevisiae
TRM8
Schizosaccharomyces pombe
trm8

TSFM

1.
Identifier
rs6581155
Cytogenetic Location
12q14.1
UCSC Genome Browser
View 12q14.1 on the UCSC genome browser

Gene details

HGNC symbol
TSFM
Aliases
EFTS; EFTSMT 
Common name
Ts translation elongation factor, mitochondrial 
Description
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
OMIM
604723
Ensembl
ENSG00000123297
UniProt/Swiss-Prot
E5KS95_HUMAN
Entrez Gene
10102
UniGene
632704
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
tsfm-1
Danio rerio
tsfm
Drosophila melanogaster
CG6412
Mus musculus
Tsfm
Rattus norvegicus
Tsfm
Schizosaccharomyces pombe
tsf1

References

Kim et al. (2015)

Other variants which are also part of this study