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.
| 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 |