PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 9134629-3 1997 The patient was found to be heterozygous for two novel point mutations: one at nucleotide 4251 in exon 6, which changes the codon for cysteine-138 (TGC) in the kringle 1 domain to that for tyrosine (TAC), and one at nucleotide 8812 in exon 10, which results in the replacement of tryptophan-357 (TGG) by cysteine (TGT) in the catalytic domain. GAMMA-GLUTAMYL-S-(1,2-DICARBOXYETHYL)CYSTEINYLGLYCINE 296-299 queuine tRNA-ribosyltransferase catalytic subunit 1 Homo sapiens 314-317 15140039-3 2004 These mutations are located at positions 527, 538, and 539 where a T, a C, and a T are substituted respectively, by an A, a T, and a G, leading to three aminoacidic substitutions at codon 152 from Valine to Glutamic Acid (GTG-->GAG), at codon 155 from Histidine to Glutamine (CAC-->CAG), and at codon 156 from Cysteine to Tryptophan (TGT-->TGG). GAMMA-GLUTAMYL-S-(1,2-DICARBOXYETHYL)CYSTEINYLGLYCINE 349-352 queuine tRNA-ribosyltransferase catalytic subunit 1 Homo sapiens 340-343