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.
| 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 : Lv_2019_Clin.Lab_65_ |
| ESTHER : Lv_2019_Clin.Lab_65_ |
| 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 : Yu_2018_BMC.Med.Genet_19_58 |
| ESTHER : Yu_2018_BMC.Med.Genet_19_58 |
| 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 : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| ESTHER : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| 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 : Yen_2003_Clin.Chem_49_1297 |
| ESTHER : Yen_2003_Clin.Chem_49_1297 |
| PubMedSearch : Yen_2003_Clin.Chem_49_1297 |
| PubMedID: 12881446 |