Literature summary for 1.5.1.20 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.

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Protein Variants

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
leukocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

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

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Release 2023.1 (January 2023)