MAT2A, methionine adenosyltransferase 2A, 4144

N. diseases: 81; N. variants: 1
Disease: Hepatic methionine adenosyltransferase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268621
Disease: Hepatic methionine adenosyltransferase deficiency
Hepatic methionine adenosyltransferase deficiency 		0.010 GeneticVariation disease BEFREE Evidence that these variants predispose individuals to thoracic aortic aneurysms and dissections includes the following: there is a paucity of rare variants in MAT2A in the population; amino acids Glu344 and Arg356 are conserved from humans to zebrafish; and substitutions of these amino acids in MAT Iα are found in individuals with hypermethioninemia. 25557781 2015