PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 12971424-8 2003 Genetic analysis confirmed that both patients are homozygous for a novel mutation c.1361C>T in the methionine synthase reductase gene leading to a replacement of serine by leucine (S454L) in a highly conserved FAD-binding domain. Leucine 175-182 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Homo sapiens 102-131