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Literature summary for 1.5.1.20 extracted from
- Sex-specific effect of the thermolabile C677T mutation in the methylenetetrahydrofolate reductase gene on angiographically assessed coronary artery disease in Brazilians (2007), Hum. Biol., 79, 453-461.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | MTHFR C677T gene polymorphism leads to a thermolabile enzyme, mild hyperhomocysteinemia, and increased coronary artery disease risk, in Caucasian Brazilians the frequency of the 677T homozygous genotype is increased in coronary artery disease cases in males but not in females, in African Brazilians the mutation is not associated with coronary artery disease in either sex | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| blood | - |
Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| methylenetetrahydrofolate reductase | - |
Homo sapiens |
| MTHFR | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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