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Torpedo_number Report for: 315

MutationKin.TypeEvaluation systemEffectReference
H322K sdmPROSS algorithmExpression in E ColiGoldenzweig_2016_Mol.Cell_63_337
H322N natp.H322N His322Asn (p.H353N His353Asn in primary sequence with 31 amino-acids signal peptide) YT blood group antigen Natural mutation YT epitope YT2 allele always associated with P446P CCC->CCT polymorphism do not alter electrophoretic and catalytic properties of the erythrocyte enzyme (masson) YT2 allele rather low in Georgian Jews (7%) always associated with P446P CCC->CCT polymorphism (Ehrlich)ACHE:c.1057C>A snp ss23142124 high but not full linkage with P446P CCC->CCT polymorphism (Hasin)Bartels_1993_Am.J.Hum.Genet_52_928,
Hasin_2004_Hum.Mutat_24_408 rs1799805

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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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