Homo sapiens butyrylcholinesterase (BCHE), mRNA.
| RefSeq Version | NM_000055.2, 148277049 |
| Length | 2461 bp |
| Structure | linear |
| Update Date | 20-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens butyrylcholinesterase (BCHE), mRNA. |
| Product | cholinesterase precursor |
| Comment | Summary: Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq]. |
| RefSeq | NP_000046.1 |
| CDS | 161..1969 | Exon (1) | 1..152 | Exon (2) | 1..152 | Exon (3) | 153..1677 | Exon (4) | 1678..1844 | Exon (5) | 1845..2447 |
| Translation | MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIP
YAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDC
LYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLARVERVIVVSMNYRVGALG
FLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPG
SHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEI
LLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVY
GAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDV
VGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLER
RDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMT
KLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCV
GL
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| Position | Chain | Variation | Link |
| 129 | + | a, g | dbSNP:1126680 |
| complement(176) | - | t, a | dbSNP:55950599 |
| complement(227) | - | t, c | dbSNP:114063013 |
| complement(279) | - | t, c | dbSNP:116047990 |
| complement(315) | - | g, a | dbSNP:56309853 |
| complement(324) | - | t, g | dbSNP:114355070 |
| complement(342) | - | t, c | dbSNP:116097205 |
| complement(373) | - | t, g | dbSNP:75995351 |
| 453 | + | a, g | dbSNP:1799807 |
| 542 | + | c, t | dbSNP:3732880 |
| complement(594..595) | - | , t | dbSNP:55703238 |
| complement(595) | - | c, a | dbSNP:71534242 |
| complement(607) | - | t, c | dbSNP:114203545 |
| 627 | + | a, g | dbSNP:121918558 |
| complement(730) | - | g, a | dbSNP:115463466 |
| complement(795) | - | g, a | dbSNP:114706984 |
| complement(850) | - | g, a | dbSNP:114127364 |
| 972 | + | c, t | dbSNP:28933389 |
| complement(1009) | - | g, c | dbSNP:16849700 |
| complement(1044) | - | t, c | dbSNP:115624085 |
| complement(1094) | - | t, a | dbSNP:114991020 |
| complement(1119) | - | g, a | dbSNP:116607681 |
| 1164 | + | c, t | dbSNP:104893684 |
| 1232 | + | a, t | dbSNP:121918557 |
| complement(1337) | - | g, c | dbSNP:115129687 |
| complement(1357) | - | , a | dbSNP:35979453 |
| 1413 | + | g, t | dbSNP:28933390 |
| complement(1621) | - | g, a | dbSNP:74458984 |
| complement(1652) | - | g, a | dbSNP:115017300 |
| 1734 | + | a, t | dbSNP:121918556 |
| complement(1773) | - | g, a | dbSNP:77586249 |
| complement(1815) | - | g, a | dbSNP:116333990 |
| complement(1822) | - | g, a | dbSNP:116021719 |
| complement(1851) | - | g, a | dbSNP:114166903 |
| 1859 | + | a, g | dbSNP:1803274 |
| complement(1982) | - | g, a | dbSNP:56084310 |
| 2158 | + | a, g | dbSNP:3495 |
| complement(2159) | - | g, a | dbSNP:55765003 |
| complement(2170) | - | t, c | dbSNP:55781241 |
| 2175 | + | a, c | dbSNP:1042406 |
| complement(2250) | - | t, g | dbSNP:55753636 |
| complement(2254) | - | g, a | dbSNP:55729116 |
| complement(2256..2257) | - | , a | dbSNP:71773447 |
| 2257..2258 | + | , t | dbSNP:17846900 |
| complement(2261..2262) | - | , a | dbSNP:71841875 |
| 2262..2263 | + | , t | dbSNP:3836432 |
| complement(2318) | - | t, c | dbSNP:55849903 |
| Title | Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy . |
| Author | Mollerup,H.M. and Gatke,M.R. |
| Journal | Acta Anaesthesiol Scand 55 (1), 82-86 (2011) |
| Title | Expression of cholinesterases in human kidney and its variation in renal cell carcinoma types . |
| Author | Munoz-Delgado,E., Montenegro,M.F., Campoy,F.J., Moral-Naranjo,M.T., Cabezas-Herrera,J., Kovacs,G. and Vidal,C.J. |
| Journal | FEBS J. 277 (21), 4519-4529 (2010) |
| Title | Design of high-activity mutants of human butyrylcholinesterase against (-)-cocaine: structural and energetic factors affecting the catalytic efficiency . |
| Author | Zheng,F., Yang,W., Xue,L., Hou,S., Liu,J. and Zhan,C.G. |
| Journal | Biochemistry 49 (42), 9113-9119 (2010) |
| Title | Free energy perturbation simulation on transition states and high-activity mutants of human butyrylcholinesterase for (-)-cocaine hydrolysis . |
| Author | Yang,W., Pan,Y., Fang,L., Gao,D., Zheng,F. and Zhan,C.G. |
| Journal | J Phys Chem B 114 (33), 10889-10896 (2010) |
| Title | Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences . |
| Author | Soliday,F.K., Conley,Y.P. and Henker,R. |
| Journal | AANA J 78 (4), 313-320 (2010) |
| Title | Refinement of the localization of human butyrylcholinesterase to chromosome 3q26.1-q26.2 using a PCR-derived probe . |
| Author | Gaughan,G., Park,H., Priddle,J., Craig,I. and Craig,S. |
| Journal | Genomics 11 (2), 455-458 (1991) |
| Title | The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26 . |
| Author | Allderdice,P.W., Gardner,H.A., Galutira,D., Lockridge,O., LaDu,B.N. and McAlpine,P.J. |
| Journal | Genomics 11 (2), 452-454 (1991) |
| Title | Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG) . |
| Author | Nogueira,C.P., McGuire,M.C., Graeser,C., Bartels,C.F., Arpagaus,M., Van der Spek,A.F., Lightstone,H., Lockridge,O. and La Du,B.N. |
| Journal | Am. J. Hum. Genet. 46 (5), 934-942 (1990) |
| Title | Structure of the gene for human butyrylcholinesterase. Evidence for a single copy . |
| Author | Arpagaus,M., Kott,M., Vatsis,K.P., Bartels,C.F., La Du,B.N. and Lockridge,O. |
| Journal | Biochemistry 29 (1), 124-131 (1990) |
| Title | Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase . |
| Author | McGuire,M.C., Nogueira,C.P., Bartels,C.F., Lightstone,H., Hajra,A., Van der Spek,A.F., Lockridge,O. and La Du,B.N. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 86 (3), 953-957 (1989) |
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