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rs1799807

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Typical BuChE
(A;G) 3.5 Heterozygous for "atypical" BuChE
(G;G) 4 Homozygous for "atypical" BuChE; see warning re drug (incl. anesthetic) use
ReferenceGRCh38 38.1/142
Chromosome3
Position165830741
GeneBCHE
is asnp
is mentioned by
dbSNPrs1799807
ebirs1799807
HLIrs1799807
Exacrs1799807
Varsomers1799807
Maprs1799807
PheGenIrs1799807
hapmaprs1799807
1000 genomesrs1799807
hgdprs1799807
ensemblrs1799807
gopubmedrs1799807
geneviewrs1799807
scholarrs1799807
googlers1799807
pharmgkbrs1799807
gwascentralrs1799807
openSNPrs1799807
23andMers1799807
23andMe allrs1799807
SNP Nexus

SNPshotrs1799807
SNPdbers1799807
MSV3drs1799807
GWAS Ctlgrs1799807
GMAF0.008264
Max Magnitude4
? (A;A) (A;G) (G;G) 28
rs1799807, also known as D70G, is a SNP in the BCHE gene. This SNP affects the structure, activity, and substrate specificity of the BuChE (butyrylcholinesterase) enzyme.

[Cholinesterases and cholinesterase inhibitors, p. 48] The variant form, rs1799807(G), replaces aspartate with glycine at the secondary substrate/inhibitor binding site. This single base substitution yields the "atypical" version of BChE. This version has a lower affinity for many substrates, including many Cholinesterase Inhibitors (CIs). A different cholinesterase (acetylcholinesterase, AChE) is an important component of neurotransmission by acetylcholine (ACh), terminating the action of ACh after it has been released during neurotransmission. BChE is found widely in the plasma and normally binds to CIs, protecting AChE from being inhibited by CIs and so maintaining normal neurotransmission by acetylcholine.

Practical consequences of altered substrate affinity from this SNP include:

  • Succinylcholine, commonly used as an anesthetic, depends on BChE hydrolysis for recovery. rs1799807(G;G) homozygotes experience a much delayed return to spontaneous breathing following its use.
  • "Atypical" BChE has a low affinity for CI alkaloids naturally occuring in certain plants, particularly those in the nightshade family (potato, tomato, peppers, eggplant, etc.). rs1799807(G) carriers may be more prone to physiological consequences of AChE inhibition from eating these foods.
  • Many pesticides are CIs, including organophosphates and carbamates. rs1799807(G) carriers may have atypical reactions to pesticide residues on foods and in the environment.
  • Many nerve agents, such as Sarin and VX gas, as well agents used to protect soldiers against them, such as pyridostigmine, are CIs. rs1799807(G) carriers may be more susceptible to exposure to these agents.

[PMID 15060281OA-icon.png] "Atypical" BuChE, rs1799807(G), has 30% lower enzymatic activity than the wild-type enzyme. Homoygous carriers of this polymorphism, rs1799807(G;G), display extreme anxiety after exposure to CIs.

OMIM177400
DescAPNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1
Variant0001
Relatedalso
Neighborrs28933389
Distance519



ClinVar
Risk rs1799807(G;G)
Alt rs1799807(G;G)
Reference rs1799807(A;A)
Significance Pathogenic
Disease Postanesthetic apnea BCHE
Variation info
Gene BCHE
CLNDBN Postanesthetic apnea BCHE, dibucaine-resistant i
Reversed 1
HGVS NC_000003.11:g.165548529T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014102.24, RCV000014103.17,



Pseudocholinesterase Deficiency