K-4X_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutation Silent variant Yu_2018_BMC.Med.Genet_19_58

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : Silent variant

Torpedo_number : -2

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.K-4X Lys25Ter c.73A>T (p.K25X Lys25Ter in primary sequence with 28 amino-acids signal peptide) (mutation in signal peptide) found in a compound heterozygote with mutation p.N106KfsX22 Asn106LysfsTer22 Yu et al.

References (1)

Title : A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report - Yu_2018_BMC.Med.Genet_19_58
Author(s) : Yu R , Guo Y , Dan Y , Tan W , Mao Q , Deng G
Ref : BMC Med Genet , 19 :58 , 2018
Abstract :
PubMedSearch : Yu_2018_BMC.Med.Genet_19_58
PubMedID: 29631548