Literature summary extracted from

Jakubowska, A.; Gronwald, J.; Menkiszak, J.; Gorski, B.; Huzarski, T.; Byrski, T.; Edler, L.; Lubinski, J.; Scott, R.J.; Hamann, U.
Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks (2007), Breast Cancer Res. Treat., 104, 299-308.

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.5.1.20	A222V	the mutation corresponding to gene polymorphism C677T is associated with an increased risk of breast and ovarian cancer	Homo sapiens
1.5.1.20	E429A	the mutation corresponding to gene polymorphism A1298T is associated with an increased risk of breast cancer	Homo sapiens

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.5.1.20	Homo sapiens	-	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
1.5.1.20	leukocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
1.5.1.20	5,10-methylenetetrahydrofolate + reduced acceptor	-	Homo sapiens	5-methyltetrahydrofolate + oxidized acceptor	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
1.5.1.20	5,10-methylenetetrahydrofolate reductase	-	Homo sapiens
1.5.1.20	MTHFR	-	Homo sapiens

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Release 2023.1 (January 2023)