p.L574SfsX2 Leu574SfsX2 (p.L602SfsX2 Leu602SfsX2 Thr343fsTer7 in the primary sequence with the 28 amino-acids signal peptide) A thymine deletion at nt 1719 leads to a change of the last amino acid from a L to S a modification of the stop codon to N and a new stop codon at codon 576 adds 2aa. Probably no effect
The genetic variation of human butyrylcholinesterase is associated with the majority of prolonged cases of apnea in patients submitted to the muscle relaxant succinylcholine. The present study reports two new mutations of the BCHE gene in 346 Euro-Brazilians: IVS3-14T>C found in five heterozygotes (allele frequency: 0.72+/-0.32%) and L574fsX576 found in one heterozygote (allele frequency: 0.14+/-0.14%). These two variants were not found in 85 Guarani Amerindians. It is not expected that the IVS3-14T>C mutation may interfere in the splicing process and that the mutation found in exon 4 (L574fsX576) may disturb BChE tetramerization and activity.
