61 rows returned| Torpedo_number | Mutation | Text | Paper |
|---|
| 9 | A7T_human-BCHE | p.A7T Ala7Thr (p.A35T Ala35Thr in primary sequence with 28 amino-acids signal peptide) mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system | Brazzolotto_2017_Molecules_22_ |
| 22 | VFGGTVT20-26del_human-BChE | p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 22,23,24,25,26,27,28 | VFGGTVT20-26del_human-BChE | p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 23 | VFGGTVT20-26del_human-BChE | p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 24 | VFGGTVT20-26del_human-BChE | p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 25 | VFGGTVT20-26del_human-BChE | p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 26 | VFGGTVT20-26del_human-BChE | p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 27 | VFGGTVT20-26del_human-BChE | p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 28 | VFGGTVT20-26del_human-BChE | p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 50 | S48P_human-BCHE | p.S48P Ser48Pro (p.S76P Ser76Pro in primary sequence with 28 amino-acids signal peptide) mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Pro as in ACHE (Torpedo, human, mouse, Bungar) | Brazzolotto_2017_Molecules_22_ |
| 56 | D54G_human-BCHE | p.D54G Asp54Gly (p.D82G Asp82Gly in primary sequence with 28 amino-acids signal peptide) mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Gly as in ACHE (Torpedo, human, mouse, Bungar) | Brazzolotto_2017_Molecules_22_ |
| 68 | C66M_human-BCHE | p.C66M Cys66Met (p.C94M Cys94Met in primary sequence with 28 amino-acids signal peptide) mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system | Brazzolotto_2017_Molecules_22_ |
| 72 | D70G/A539T_human-BCHE | p.D70G/A539T Asp70Gly/Ala539Thr (p.D98G/A567T Asp70Gly/Ala567Thr in primary sequence with 28 amino-acids signal peptide) A539T co appears with D70G natural mutation. K-variant and Atypical variant | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 72,541 | D70G/A539T_human-BCHE | p.D70G/A539T Asp70Gly/Ala539Thr (p.D98G/A567T Asp70Gly/Ala567Thr in primary sequence with 28 amino-acids signal peptide) A539T co appears with D70G natural mutation. K-variant and Atypical variant | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 73 | Q71T_human-BCHE | p.Q71T Gln71Thr (p.Q99T Gln99Thr in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system | Brazzolotto_2017_Molecules_22_ |
| 90 | L88H_human-BChE | p.L88H Leu88His c.347T>A. Found in a compound heterozygote state with D70G/A539T (K and Atypycal variant) and deletion of Ile 140 I140del in a 31-year woman with moderate BChE deficiency (1344U/L) | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 112 | L110M_human-BCHE | p.L110M Leu110Met (p.L138M Leu138Met in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Gly as in ACHE of Torpedo (not human) | Brazzolotto_2017_Molecules_22_ |
| 113 | I111V_human-BCHE | p.I111V Ile111Val (p.I139V Ile139Val in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Val as in ACHE of Torpedo californica and human but not mouse | Brazzolotto_2017_Molecules_22_ |
| 128 | H126P_human-BCHE | p.H126P His126Pro (p.H154P His154Pro in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system | Brazzolotto_2017_Molecules_22_ |
| 142 | I140del_human-BChE | p.I140del Ile140del c.502_504delATT. Found in a compound heterozygote state with D70G/A539T (K and Atypycal variant) and Leu88His mutation in a 31-year woman with moderate BChE deficiency (1344U/L) | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 178 | Q176K_human-BCHE | p.Q176K Gln176Lys (p.Q204K Gln204Lys in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system | Brazzolotto_2017_Molecules_22_ |
| 182 | K180D_human-BCHE | p.K180D Lys180Asp (p.K208D Lys208Asp in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Asp as in ACHE of Torpedo californica | Brazzolotto_2017_Molecules_22_ |
| 190 | N188D_human-BCHE | p.N188D Asn188Asp (p.N216D Asn216Asp in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system The mutation gives Asp as in ACHE of Torpedo californica human and mouse | Brazzolotto_2017_Molecules_22_ |
| 192 | K190N_human-BCHE | p.K190N Lys190Asn (p.K218N Lys218Asn in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 193 | S191R_human-BCHE | p.S191R Ser191Arg (p.S219R Ser219Arg in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 217 | S215P_human-BCHE | p.S215P Ser215Pro (p.S243P Ser243Pro in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 229 | F227A_human-BCHE | p.F227A Phe227Ala (p.F255A Phe255Ala in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 236 | T234M_human-BCHE | p.T234M Thr234Met (p.T262M Thr262Met in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 238 | L236P_human-BCHE | p.L236P Leu236Pro (p.L264P Leu264Pro in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Pro as in ACHE of Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 239 | Y237E_human-BCHE | p.Y237E Tyr237Glu (p.Y265E Tyr265Glu in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 252 | T250L_human-BCHE | p.T250L Thr250Leu (p.T278L Thr278Leu in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Leu as in ACHE of Torpedo Californica and Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 276 | L274D_human-BCHE | p.L274D Leu274Asp (p.L302D Leu302Asp in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Leu as in ACHE of Torpedo Californica and human and mouse Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 285 | G283S_human-BCHE | p.G283S Gly283Ser (p.G311S Gly311Ser in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 307 | I305T_human-BCHE | p.I305T I305T (p.I333T I333T in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 344 | N342D_human-BCHE | p.N342D Asn342Asp (p.N370D Asn370Asp in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 358 | I356V_human-BCHE | p.I356V Ile356Val (p.I384V Ile384Val in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 362 | G360N_human-BCHE | p.G360N Gly360Asn (p.G388N Gly388Asn in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 379 | V377E_human-BCHE | p.V377E Val377Glu (p.V405E Val405Glu in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 381 | D379E_human-BCHE | p.D379E Asp379Glu (p.D407E Asp407Glu in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 382 | Q380D_human-BCHE | p.Q380D Gln380Asp (p.Q408D Gln408Asp in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Asp as in ACHE of Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 388 | R386C_human-BCHE | p.R386C Arg386Cys (p.R414C Arg414Cys in primary sequence with 28 amino-acids signal peptide) Found in an homozygous state in a 50 year old woman with almost total BChE deficiency 93U/L | Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| 389 | E387D_human-BCHE | p.E387D Glu387Asp (p.E415D Glu415Asp in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Asp as in ACHE of Torpedo californica and mouse | Brazzolotto_2017_Molecules_22_ |
| 392 | G390A_human-BCHE | p.G390A Gly390Ala (p.G418A Gly418Ala in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 392 | D391E_human-BCHE | p.D391E Asp391Glu (p.D419E Asp419Glu in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 399 | N397F_human-BCHE | p.N397F Asn397Phe (p.N425F Asn425Phe in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 408 | T406A_human-BCHE | p.T406A Thr406Ala (p.T434A Thr434Ala in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system.. The mutation gives Ala as in ACHE of human and mouse | Brazzolotto_2017_Molecules_22_ |
| 411 | F409Y_human-BCHE | p.F409Y Phe409Tyr (p.F437Y Phe437Tyr in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Ala as in ACHE of Torpedo californica and Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 412 | S410A_human-BCHE | p.S410A Ser410Ala (p.S438A Ser438Ala in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Ala as in ACHE of human mouse and Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 414 | W412H_human-BCHE | p.W412H Trp412His (p.W440H Trp440His in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 419 | F417Y_human-BCHE | p.F417Y Phe417Tyr (p.F445Y Phe445Tyr in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Tyr as in ACHE of Torpedo californica, human, mouse, and Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 456 | D454L_human-BCHE | p.D454L Asp454Leu (p.D482L Asp482Leu in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Asp as in ACHE of Torpedo californica, human, mouse, and Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 461 | A459E_human-BCHE | p.A459E Ala459Glu (p.A487E Ala487Glu in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Glu as in ACHE of Torpedo californica, human, mouse | Brazzolotto_2017_Molecules_22_ |
| 468 | S466E_human-BCHE | p.S466E Ser466Glu (p.S494E Ser494Glu in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Glu as in ACHE of Torpedo californica, and Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 470 | V468M_human-BCHE | p.V468M Val468Met (p.V496M Val496Met in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Met as in ACHE of Torpedo californica, human mouse and Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 471 | K469R_human-BCHE | p.K469R Lys469Arg (p.K497R Lys497Arg in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Arg as in ACHE of Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 491 | S489Q_human-BCHE | p.S489Q Ser489Gln (p.S517Q Ser517Gln in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. The mutation gives Arg as in ACHE of human and mouse | Brazzolotto_2017_Molecules_22_ |
| 497 | S495P_human-BCHE | p.S495P Ser495Pro (p.S523P Ser523Pro in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 510 | T508S_human-BCHE | p.T508S Thr508Ser (p.T536S Thr536Ser in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 520 | Q518H_human-BCHE | p.Q518H Q518H (p.Q546H Q546H in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system. | Brazzolotto_2017_Molecules_22_ |
| 525 | T523N_human-BCHE | p.T523N Thr523Asn (p.T551N Thr551Asn in primary sequence with 28 amino-acids signal peptide) Mutation designed by -Protein Repair One Stop Shop- process for the production of active human butyrylcholinesterase in a prokaryotic system.. The mutation gives Asn as in ACHE of Torpedo californica, human, mouse, Bungarus fasciatus | Brazzolotto_2017_Molecules_22_ |
| 541 | D70G/A539T_human-BCHE | p.D70G/A539T Asp70Gly/Ala539Thr (p.D98G/A567T Asp70Gly/Ala567Thr in primary sequence with 28 amino-acids signal peptide) A539T co appears with D70G natural mutation. K-variant and Atypical variant | Brazzolotto_2021_Pharmacogenomics.J_21_165 |