N106KfsX22_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Silent variant Natural mutation p.N134KfsX22 Silent phenotype, A insertion Yen_2003_Clin.Chem_49_1297 || Silent variant Natural mutation Silent phenotype, A insertion On-Kei Chan_2005_Clin.Chim.Acta_351_155

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Silent variant

Torpedo_number : 108

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.N106KfsX22 Asn106LysfsTer22 c.395_396insA (p.N134KfsX22 Asn134LysfsTer22 in primary sequence with 28 amino-acids signal peptide) Silent phenotype. normal sequence PKPKNATVLIWIYGGGFQTGTSSLHVYD mutated sequence PKPKKCHCIDMDLWWWFSNWNIIFTCL. Also found in a compound heterozygote with mutation p.K25X Lys25Ter Yu et al.

References (4)

Title : A Case Report of Primary Neonatal Hypocholinesterase Caused by Homozygous Frameshift Mutation of the butyrylcholinesterase (BCHE) Gene and Review of Literature - Lv_2019_Clin.Lab_65_
Author(s) : Lv HY , Yang LH , Bu LN , Wang QL , Gu XL , Wang ZY , Ren PS , Li LX
Ref : Clin Lab , 65 : , 2019
Abstract :
PubMedSearch : Lv_2019_Clin.Lab_65_
PubMedID: 31307170

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

Title : Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity - On-Kei Chan_2005_Clin.Chim.Acta_351_155
Author(s) : On-Kei Chan A , Lam CW , Tong SF , Man Tung C , Yung K , Chan YW , Au KM , Yuen YP , Hung CT , Ng KP , Shek CC
Ref : Clinica Chimica Acta , 351 :155 , 2005
Abstract :
PubMedSearch : On-Kei Chan_2005_Clin.Chim.Acta_351_155
PubMedID: 15563885

Title : Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population - Yen_2003_Clin.Chem_49_1297
Author(s) : Yen T , Nightingale BN , Burns JC , Sullivan DR , Stewart PM
Ref : Clinical Chemistry , 49 :1297 , 2003
Abstract :
PubMedSearch : Yen_2003_Clin.Chem_49_1297
PubMedID: 12881446