LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian (Sicily)
- Study Design
- 3 MEFV associated mutations, M694V (A2080G), M694I (G2082A) and V726A (T2177C), were examined in 121 patients affected by acute myocardial infarction (AMI), 68 centenarians, and 196 age-matched controls from Sicily.
- Conclusions
- The proinflammatory M694V (A2080G) mutation was over-represented significantly in coronary heart disease patients and under-represented in oldest old, and intermediate values were in healthy, young controls
- Identifier
- M694V
- Cytogenetic Location
- 16p13.3
- UCSC Genome Browser
- View 16p13.3 on the UCSC genome browser
Gene details
- HGNC symbol
- MEFV
- Aliases
- FMF; MEF; TRIM20
- Common name
- MEFV, pyrin innate immunity regulator
- Description
- This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 608107
- Ensembl
- ENSG00000103313
- UniProt/Swiss-Prot
- D2DTW2_HUMAN
- Entrez Gene
- 4210
- UniGene
- 632221
- HapMap
- View on HapMap