Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.G69S
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MAT1A

NM_000429.3:p.G69S

Associated Papers

Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.

Tong F et al.

Frontiers in Cell and Developmental Biology, 2022

36704196 (PubMed )
Supplement: DataSheet1.PDF

Polar Interactions at the Dimer-Dimer Interface of Methionine Adenosyltransferase MAT I Control Tetramerization.

Sánchez-Pérez GF et al.

International Journal of Molecular Sciences, 2021

Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.

Panmanee J et al.

Acta Crystallographica. Section D, Structural Biology, 2020

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Chien YH et al.

Orphanet Journal of Rare Diseases, 2015

Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits.

Shafqat N et al.

The Biochemical Journal, 2013

Spectrum of hypermethioninemia in neonatal screening.

Chien YH et al.

Early Human Development, 2005

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

Fernández-Irigoyen J et al.

Molecular Genetics and Metabolism, 0

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