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Mutation Report for: E313G_human-ACHE
Name
Class
E313G_human-ACHE
Gene_locus
human-ACHE
Torpedo_number
306
AA_Change
E313G
Mode_of_mutation
Natural mutant
Modification
snp Natural mutation
Summary
Natural mutation;ACHE:c.1031A>G snp ss23142123;Hasin_2004_Hum.Mutat_24_408
Paper
Hasin_2004_Hum.Mutat_24_408
News
OCTOBER-21-2004
Comment
p.E313G Glu313Gly (p.E344G Glu344Gly in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations could not be performed (Hasin et al 2004) rs17228588
Send your questions or comments to :
Mail to:
Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite:
Lenfant 2013 Nucleic.Acids.Res.
or
Marchot Chatonnet 2012 Prot.Pept Lett.
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