A269S_human-CES1

General

Gene Locus : human-CES1, human-CES1, human-CES1

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutant Wang_2017_Drug.Metab.Dispos_45_1149

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : Natural mutation

Torpedo_number : 249

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.Ala269Ser Nucleotide change G913T rs115629050. Whole exome sequencing data from 18 METH-PAH (Pulmonary arterial hypertension complication of methamphetamine use) patients revealed that 94.4\% of METH-PAH patients were heterozygous carriers of a single nucleotide variant (SNV\; rs115629050) predicted to reduce CES1 activity

References (9)

Title : A Comprehensive Functional Assessment of Carboxylesterase 1 Nonsynonymous Polymorphisms - Wang_2017_Drug.Metab.Dispos_45_1149
Author(s) : Wang X , Rida N , Shi J , Wu AH , Bleske BE , Zhu HJ
Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , 45 :1149 , 2017
Abstract :
PubMedSearch : Wang_2017_Drug.Metab.Dispos_45_1149
PubMedID: 28838926
Gene_locus related to this paper: human-CES1

Title : A Comprehensive Functional Assessment of Carboxylesterase 1 Nonsynonymous Polymorphisms - Wang_2017_Drug.Metab.Dispos_45_1149
Author(s) : Wang X , Rida N , Shi J , Wu AH , Bleske BE , Zhu HJ
Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , 45 :1149 , 2017
Abstract :
PubMedSearch : Wang_2017_Drug.Metab.Dispos_45_1149
PubMedID: 28838926
Gene_locus related to this paper: human-CES1

Title : A Comprehensive Functional Assessment of Carboxylesterase 1 Nonsynonymous Polymorphisms - Wang_2017_Drug.Metab.Dispos_45_1149
Author(s) : Wang X , Rida N , Shi J , Wu AH , Bleske BE , Zhu HJ
Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , 45 :1149 , 2017
Abstract :
PubMedSearch : Wang_2017_Drug.Metab.Dispos_45_1149
PubMedID: 28838926
Gene_locus related to this paper: human-CES1

Title : Reduced carboxylesterase 1 is associated with endothelial injury in methamphetamine-induced pulmonary arterial hypertension - Orcholski_2017_Am.J.Physiol.Lung.Cell.Mol.Physiol_313_L252
Author(s) : Orcholski ME , Khurshudyan A , Shamskhou EA , Yuan K , Chen IY , Kodani SD , Morisseau C , Hammock BD , Hong EM , Alexandrova L , Alastalo TP , Berry G , Zamanian RT , de Jesus Perez VA
Ref : American Journal of Physiology Lung Cell Mol Physiol , 313 :L252 , 2017
Abstract :
PubMedSearch : Orcholski_2017_Am.J.Physiol.Lung.Cell.Mol.Physiol_313_L252
PubMedID: 28473326
Gene_locus related to this paper: human-CES1

Title : Reduced carboxylesterase 1 is associated with endothelial injury in methamphetamine-induced pulmonary arterial hypertension - Orcholski_2017_Am.J.Physiol.Lung.Cell.Mol.Physiol_313_L252
Author(s) : Orcholski ME , Khurshudyan A , Shamskhou EA , Yuan K , Chen IY , Kodani SD , Morisseau C , Hammock BD , Hong EM , Alexandrova L , Alastalo TP , Berry G , Zamanian RT , de Jesus Perez VA
Ref : American Journal of Physiology Lung Cell Mol Physiol , 313 :L252 , 2017
Abstract :
PubMedSearch : Orcholski_2017_Am.J.Physiol.Lung.Cell.Mol.Physiol_313_L252
PubMedID: 28473326
Gene_locus related to this paper: human-CES1

Title : Reduced carboxylesterase 1 is associated with endothelial injury in methamphetamine-induced pulmonary arterial hypertension - Orcholski_2017_Am.J.Physiol.Lung.Cell.Mol.Physiol_313_L252
Author(s) : Orcholski ME , Khurshudyan A , Shamskhou EA , Yuan K , Chen IY , Kodani SD , Morisseau C , Hammock BD , Hong EM , Alexandrova L , Alastalo TP , Berry G , Zamanian RT , de Jesus Perez VA
Ref : American Journal of Physiology Lung Cell Mol Physiol , 313 :L252 , 2017
Abstract :
PubMedSearch : Orcholski_2017_Am.J.Physiol.Lung.Cell.Mol.Physiol_313_L252
PubMedID: 28473326
Gene_locus related to this paper: human-CES1

Title : Population Pharmacokinetics of Methylphenidate in Healthy Adults Emphasizing Novel and Known Effects of Several Carboxylesterase 1 (CES1) Variants - Lyauk_2016_Clin.Transl.Sci_9_337
Author(s) : Lyauk YK , Stage C , Bergmann TK , Ferrero-Milliani L , Bjerre D , Thomsen R , Dalhoff KP , Rasmussen HB , Jurgens G
Ref : Clin Transl Sci , 9 :337 , 2016
Abstract :
PubMedSearch : Lyauk_2016_Clin.Transl.Sci_9_337
PubMedID: 27754602
Gene_locus related to this paper: human-CES1

Title : Population Pharmacokinetics of Methylphenidate in Healthy Adults Emphasizing Novel and Known Effects of Several Carboxylesterase 1 (CES1) Variants - Lyauk_2016_Clin.Transl.Sci_9_337
Author(s) : Lyauk YK , Stage C , Bergmann TK , Ferrero-Milliani L , Bjerre D , Thomsen R , Dalhoff KP , Rasmussen HB , Jurgens G
Ref : Clin Transl Sci , 9 :337 , 2016
Abstract :
PubMedSearch : Lyauk_2016_Clin.Transl.Sci_9_337
PubMedID: 27754602
Gene_locus related to this paper: human-CES1

Title : Population Pharmacokinetics of Methylphenidate in Healthy Adults Emphasizing Novel and Known Effects of Several Carboxylesterase 1 (CES1) Variants - Lyauk_2016_Clin.Transl.Sci_9_337
Author(s) : Lyauk YK , Stage C , Bergmann TK , Ferrero-Milliani L , Bjerre D , Thomsen R , Dalhoff KP , Rasmussen HB , Jurgens G
Ref : Clin Transl Sci , 9 :337 , 2016
Abstract :
PubMedSearch : Lyauk_2016_Clin.Transl.Sci_9_337
PubMedID: 27754602
Gene_locus related to this paper: human-CES1