T315NfsX7_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Silent variant Natural mutation Silent Non-producer ACC->AACC Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61, Hidaka_1992_Rinsho.Byori_40_535

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Silent variant, Natural mutation

Torpedo_number : 317

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.T315NfsX7 Thr315fsTer7 c.1020_1021InsA codon 315 ACC->AACC (p.T343NfsX7 Thr343fsTer7 in the primary sequence with the 28 amino-acids signal peptide) Silent variant rs754214624

References (5)

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
PubMedID: 15563885

Title : Mutations of human butyrylcholinesterase gene in a family with hypocholinesterasemia -
Author(s) : Iida S , Kinoshita M , Fujii H , Moriyama Y , Nakamura Y , Yura N , Moriwaki K
Ref : Hum Mutat , 6 :349 , 1995
PubMedID: 8680411

Title : A family with hereditary serum cholinesterase deficiency - Hirasaki_1995_Int.Med_34_632
Author(s) : Hirasaki S , Koide N , Ujike K , Yamamoto H , Fujita Y , Tanigawa T
Ref : Internal Medicine , 34 :632 , 1995
PubMedID: 7496072

Title : Heterogeneity of the Silent Phenotype of Human Butyrylcholinesterase - Identification of Eight New Mutations -
Author(s) : Primo-Parmo SL , Bartels CF
Ref : In Multidisciplinary approaches to cholinesterase functions - Proceedings of Fourth International Meeting on Cholinesterases , (Shafferman, A. and Velan, B., Eds) Plenum Press, New York :61 , 1992
PubMedID:

Title : [Identification of two different genetic mutation associated with silent phenotypes for human serum cholinesterase in Japanese] - Hidaka_1992_Rinsho.Byori_40_535
Author(s) : Hidaka K , Iuchi I , Yamasaki T , Ohhara M , Shoda T , Primo-Parmo SL , La Du BN
Ref : Rinsho Byori , 40 :535 , 1992
PubMedID: 1507480