PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 2175344-3 1990 We found a mutation (adenine for guanine) at nucleotide 654 of the gelsolin gene in genomic DNA isolated from five FAF patients. Adenine 21-28 gelsolin Homo sapiens 67-75 1322359-3 1992 We previously developed a DNA test based on amplification by the polymerase chain reaction followed by allele-specific oligonucleotide hybridization that identifies the base substitution adenine for guanine at nucleotide 654 in the gelsolin gene causing the disease. Adenine 187-194 gelsolin Homo sapiens 232-240 1311149-2 1992 We have shown that the novel amyloid fibril protein found in these patients is an internal degradation fragment of gelsolin, an actin-binding protein, and that it contains an amino acid substitution, asparagine for aspartic acid at position 15, that is due to a guanine-to-adenine transversion corresponding to codon 187 of human plasma gelsolin cDNA. Adenine 273-280 gelsolin Homo sapiens 115-123 2176481-4 1990 Sequence analysis shows that, in both cases, the amyloid subunit starts at position 173 of the mature molecule; it has a heterogeneous N-terminus and contains one amino acid substitution, namely asparagine for aspartic acid, at position 15 (gelsolin residue 187), that is due to a guanine-to-adenine transversion corresponding to nucleotide-654 of human plasma gelsolin cDNA. Adenine 292-299 gelsolin Homo sapiens 241-249 22938848-4 2013 Sequencing of the gelsolin gene revealed a previously undescribed sequence variant, a guanine to adenine substitution at nucleotide 580 of the coding sequence, corresponding to a predicted glycine to arginine mutation at amino acid 194. Adenine 97-104 gelsolin Homo sapiens 18-26