PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 15223008-1 2004 BACKGROUND/AIMS: Homozygosity for a cysteine to tyrosine translocation at position 282 within the HFE gene (C282Y) is responsible for over 90% of hereditary hemochromatosis (HH) in Celtic populations. Cysteine 36-44 homeostatic iron regulator Homo sapiens 98-101 16871764-2 2006 In recent years, a candidate gene for HLA-linked hemochromatosis, HFE, has been cloned, and a single G-to-A mutation resulting in a cysteine-to-tyrosine substitution (C282Y) has been identified in up to 80% of study patients with type 1 hereditary hemochromatosis. Cysteine 132-140 homeostatic iron regulator Homo sapiens 38-69 14740507-3 2004 Since 80-100% of hemochromatosis patients of European origin are homozygous for a cysteine to tyrosine exchange in the HFE gene at codon 282, genetic screening might be useful. Cysteine 82-90 homeostatic iron regulator Homo sapiens 119-122 15222129-4 2004 The C282Y and the H63D HFE gene distributions in patients with CAD (C282Y: YY 0.6%, CY 9.0%, CC 90.4%; H63D: DD 3.8%, HD 21.8%, HH 74.4%) were not significantly different from those of diabetic subjects without CAD (C282Y: YY 0%, CY 8.2%, CC 91.8%; H63D: DD 2.2%, HD 20.3%, HH 77.5%). Cysteine 84-86 homeostatic iron regulator Homo sapiens 23-26 12208162-3 2002 About 80% of individuals of European descent with HH are homozygous for a cysteine-to-tyrosine substitution (C282Y) in the gene now called HFE. Cysteine 74-82 homeostatic iron regulator Homo sapiens 139-142 9873093-1 1999 A candidate gene, HFE, was recently described in patients with hereditary hemochromatosis (HH) and found to contain a missense mutation leading to a cysteine to tyrosine substitution (C282Y). Cysteine 149-157 homeostatic iron regulator Homo sapiens 18-21 21370159-6 2001 Approximately 85% of unrelated HH patients are homozygous for a point mutation involving a G to A change at nucleotide 845 in the HFE cDNA sequence (G845A) that converts cysteine, at amino acid position 282, to tyrosine (Cys282Tyr or C282Y) (2). Cysteine 170-178 homeostatic iron regulator Homo sapiens 130-133 10739755-10 2000 We conclude that HFE CY and HD heterozygotes differ in iron status from the CC and HH homozygotes and that serum transferrin saturation is more affected than is serum ferritin. Cysteine 21-23 homeostatic iron regulator Homo sapiens 17-20 9356458-3 1997 Most HH patients are homozygous for a Cys-282-->Tyr (C282Y) mutation in HFE gene, which has been shown to disrupt interaction with beta2-microglobulin; a second mutation, His-63-->Asp (H63D), is enriched in HH patients who are heterozygous for C282Y mutation. Cysteine 38-41 homeostatic iron regulator Homo sapiens 75-78 9658732-6 1998 STATE OF ART AND PERSPECTIVE: HC is now recognized as the genetic disease characterized by the homozygosity for the Cys-->Tyr substitution at position 282 (C282Y) of the HFE protein. Cysteine 116-119 homeostatic iron regulator Homo sapiens 173-176 9358014-0 1997 Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. Cysteine 41-44 homeostatic iron regulator Homo sapiens 26-29