N96Y_human-BCHE

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Succinylcholine hydrolysis Natural mutation hypocholinesterasemia heterozygous missense mutation AAT to TAT, N in SEDLYLN Yen_2003_Clin.Chem_49_1297

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Succinylcholine hydrolysis

Torpedo_number : 98

Kinetic Parameter : No kinetic parameter

News : OCTOBER-21-2004

Comment : p.N96Y Asn96Tyr (p.N114Y Asn114Tyr in primary sequence with 28 amino-acids signal peptide) hypocholinesterasemia heterozygous missense mutation AAT to TAT, N in SEDLYLN