Literature summary for 1.5.1.20 extracted from

Almawi, W.; Khan, A.; Al-Othman, S.; Bakhiet, M.
Case-control study of methylenetetrahydrofolate reductase mutations and hyperhomocysteinemia and risk of stroke (2009), J. Stroke Cerebrovasc. Dis., 18, 407-408.

Search for more literature for 1.5.1.20

Application

Application	Comment	Organism
medicine	study on association of factor V-Leiden and methylenetetrahydrofolate reductase C677T and A1298C mutations with stroke. MTHFR C677T/C677T and A1298C/A1298C, but not factor V-Leiden, genotypes are associated with stroke. The C677T but not A1298C MTHFR mutation is associated with elevated homocysteine levels in patients and control subjects. In addition to hypertension, the significant predictors for stroke are MTHFR C677T and C677T/C677T and A1298C/A1298C genotypes, together with hyperhomocysteinemia, indicating a synergistic effect of MTHFR mutations with elevated homocysteine and other risk factors in pathogenesis of stroke	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A1298C	MTHFR C677T/C677T and A1298C/A1298C, but not factor V-Leiden, genotypes are associated with stroke. The C677T but not A1298C MTHFR mutation is associated with elevated homocysteine levels in patients and control subjects	Homo sapiens
C677T	MTHFR C677T/C677T and A1298C/A1298C, but not factor V-Leiden, genotypes are associated with stroke. The C677T but not A1298C MTHFR mutation is associated with elevated homocysteine levels in patients and control subjects	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)