F195EfsX38_human-BCHE

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Succinylcholine hydrolysis Natural mutation Succinylcholine hydrolysis heterozygous deletion mutation compound with heterozygous mutation R386C Zeng_2024_Medicine.(Baltimore)_103_e39976 || Natural mutation heterozygous deletion mutation compound with heterozygous mutation R386C Zeng_2024_Medicine.(Baltimore)_103_e39976

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 197

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
NM_000055.4:c.666_669del (p.Phe223Glufs*38) Found in a compound heterozygote state with R386C) in a 50 year old woman with almost total BChE deficiency. Her serum cholinesterase level was 211 U\/L