> top > docs > PubMed:25054547 > annotations

PubMed:25054547 JSONTXT

Annnotations TAB JSON ListView MergeView

test-210614

Id Subject Object Predicate Lexical cue proteinmutation
25054547_0 1884-1894 ProteinMutation denotes p70Gly-p.A rs1799807
25054547_1 1895-1906 ProteinMutation denotes a539Thr tet rs1803274
25054547_2 1157-1167 ProteinMutation denotes p70Gly-p.A rs1799807
25054547_3 1168-1179 ProteinMutation denotes a539Thr BCh rs1803274

PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
25054547_0 1884-1894 ProteinMutation denotes p70Gly-p.A rs1799807
25054547_1 1895-1906 ProteinMutation denotes a539Thr tet rs1803274
25054547_2 1157-1167 ProteinMutation denotes p70Gly-p.A rs1799807
25054547_3 1168-1179 ProteinMutation denotes a539Thr BCh rs1803274

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-142 Sentence denotes Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.
T2 143-324 Sentence denotes Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
T3 325-492 Sentence denotes Here, we report a case of prolonged neuromuscular block after administration of suxamethonium leading to the discovery of a novel BCHE variant (c.695T>A, p.Val204Asp).
T4 493-666 Sentence denotes Inhibition studies, kinetic analysis and molecular dynamics were undertaken to understand how this mutation disrupts the catalytic triad and determines a "silent" phenotype.
T5 667-862 Sentence denotes Low activity of patient plasma butyrylcholinesterase with butyrylthiocholine (BTC) and benzoylcholine, and values of dibucaine and fluoride numbers fit with heterozygous atypical silent genotype.
T6 863-1107 Sentence denotes Electrophoretic analysis of plasma BChE of the proband and his mother showed that patient has a reduced amount of tetrameric enzyme in plasma and that minor fast-moving BChE components: monomer, dimer, and monomer-albumin conjugate are missing.
T7 1108-1243 Sentence denotes Kinetic analysis showed that the p.Val204Asp/p.Asp70Gly-p.Ala539Thr BChE displays a pure Michaelian behavior with BTC as the substrate.
T8 1244-1423 Sentence denotes Both catalytic parameters Km = 265 µM for BTC, two times higher than that of the atypical enzyme, and a low Vmax are consistent with the absence of activity against suxamethonium.
T9 1424-1734 Sentence denotes Molecular dynamic (MD) simulations showed that the overall effect of the mutation p.Val204Asp is disruption of hydrogen bonding between Gln223 and Glu441, leading Ser198 and His438 to move away from each other with subsequent disruption of the catalytic triad functionality regardless of the type of substrate.
T10 1735-1823 Sentence denotes MD also showed that the enzyme volume is increased, suggesting a pre-denaturation state.
T11 1824-1996 Sentence denotes This fits with the reduced concentration of p.Ala204Asp/p.Asp70Gly-p.Ala539Thr tetrameric enzyme in the plasma and non-detectable fast moving-bands on electrophoresis gels.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
10153 28-32 GeneOrGeneProduct denotes BCHE NCBIGene:590
10154 66-77 SequenceVariant denotes p.Val204Asp p|SUB|V|204|D
10155 117-122 DiseaseOrPhenotypicFeature denotes apnea MESH:D001049
10156 128-141 ChemicalEntity denotes suxamethonium MESH:D013390
10157 143-175 DiseaseOrPhenotypicFeature denotes Butyrylcholinesterase deficiency MESH:C537417
10158 206-211 DiseaseOrPhenotypicFeature denotes apnea MESH:D001049
10159 229-245 ChemicalEntity denotes muscle relaxants
10160 247-260 ChemicalEntity denotes suxamethonium MESH:D013390
10161 264-274 ChemicalEntity denotes mivacurium MESH:D000077590
10162 279-287 OrganismTaxon denotes patients NCBITaxon:9606
10163 314-318 GeneOrGeneProduct denotes BCHE NCBIGene:590
10164 361-380 DiseaseOrPhenotypicFeature denotes neuromuscular block MESH:D055191
10165 405-418 ChemicalEntity denotes suxamethonium MESH:D013390
10166 455-459 GeneOrGeneProduct denotes BCHE NCBIGene:590
10167 469-477 SequenceVariant denotes c.695T>A c|SUB|T|695|A
10168 479-490 SequenceVariant denotes p.Val204Asp p|SUB|V|204|D
10169 683-690 OrganismTaxon denotes patient NCBITaxon:9606
10170 698-719 GeneOrGeneProduct denotes butyrylcholinesterase NCBIGene:590
10171 725-743 ChemicalEntity denotes butyrylthiocholine MESH:D002092
10172 745-748 ChemicalEntity denotes BTC MESH:D002092
10173 754-768 ChemicalEntity denotes benzoylcholine MESH:D001588
10174 784-793 ChemicalEntity denotes dibucaine MESH:D003992
10175 798-806 ChemicalEntity denotes fluoride MESH:D005459
10176 898-902 GeneOrGeneProduct denotes BChE NCBIGene:590
10177 945-952 OrganismTaxon denotes patient NCBITaxon:9606
10178 1032-1036 GeneOrGeneProduct denotes BChE NCBIGene:590
10179 1141-1152 SequenceVariant denotes p.Val204Asp p|SUB|V|204|D
10180 1153-1163 SequenceVariant denotes p.Asp70Gly DBSNP:rs1799807
10181 1164-1175 SequenceVariant denotes p.Ala539Thr DBSNP:rs1803274
10182 1176-1180 GeneOrGeneProduct denotes BChE NCBIGene:590
10183 1222-1225 ChemicalEntity denotes BTC MESH:D002092
10184 1286-1289 ChemicalEntity denotes BTC MESH:D002092
10185 1409-1422 ChemicalEntity denotes suxamethonium MESH:D013390
10186 1506-1517 SequenceVariant denotes p.Val204Asp p|SUB|V|204|D
10187 1560-1566 SequenceVariant denotes Gln223 p|Allele|Q|223
10188 1571-1577 SequenceVariant denotes Glu441 p|Allele|E|2441
10189 1587-1593 SequenceVariant denotes Ser198 p|Allele|S|198
10190 1598-1604 SequenceVariant denotes His438 p|Allele|H|438
10191 1868-1879 SequenceVariant denotes p.Ala204Asp p|SUB|A|204|D
10192 1880-1890 SequenceVariant denotes p.Asp70Gly DBSNP:rs1799807
10193 1891-1902 SequenceVariant denotes p.Ala539Thr DBSNP:rs1803274

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 143-175 DiseaseOrPhenotypicFeature denotes Butyrylcholinesterase deficiency 0015270

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 66-77 SequenceVariant denotes p.Val204Asp
T2 469-477 SequenceVariant denotes c.695T>A
T3 479-490 SequenceVariant denotes p.Val204Asp
T4 1141-1152 SequenceVariant denotes p.Val204Asp
T5 1153-1163 SequenceVariant denotes p.Asp70Gly
T6 1164-1175 SequenceVariant denotes p.Ala539Thr
T7 1506-1517 SequenceVariant denotes p.Val204Asp
T8 1868-1879 SequenceVariant denotes p.Ala204Asp
T9 1880-1890 SequenceVariant denotes p.Asp70Gly
T10 1891-1902 SequenceVariant denotes p.Ala539Thr

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 22-27 GeneOrGeneProduct denotes novel
T2 28-32 GeneOrGeneProduct denotes BCHE
T3 143-164 GeneOrGeneProduct denotes Butyrylcholinesterase
T4 229-235 GeneOrGeneProduct denotes muscle
T5 314-318 GeneOrGeneProduct denotes BCHE
T6 361-374 GeneOrGeneProduct denotes neuromuscular
T7 449-454 GeneOrGeneProduct denotes novel
T8 455-459 GeneOrGeneProduct denotes BCHE
T9 614-623 GeneOrGeneProduct denotes catalytic
T10 698-719 GeneOrGeneProduct denotes butyrylcholinesterase
T11 837-845 GeneOrGeneProduct denotes atypical
T12 959-966 GeneOrGeneProduct denotes reduced
T13 988-994 GeneOrGeneProduct denotes enzyme
T14 1014-1019 GeneOrGeneProduct denotes minor
T15 1020-1024 GeneOrGeneProduct denotes fast
T16 1077-1084 GeneOrGeneProduct denotes albumin
T17 1099-1106 GeneOrGeneProduct denotes missing
T18 1208-1216 GeneOrGeneProduct denotes behavior
T19 1249-1258 GeneOrGeneProduct denotes catalytic
T20 1325-1333 GeneOrGeneProduct denotes atypical
T21 1334-1340 GeneOrGeneProduct denotes enzyme
T22 1628-1633 GeneOrGeneProduct denotes other
T23 1668-1677 GeneOrGeneProduct denotes catalytic
T24 1759-1765 GeneOrGeneProduct denotes enzyme
T25 1843-1850 GeneOrGeneProduct denotes reduced
T26 1914-1920 GeneOrGeneProduct denotes enzyme
T27 1954-1958 GeneOrGeneProduct denotes fast

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 22-27 GeneOrGeneProduct denotes novel
T2 28-32 GeneOrGeneProduct denotes BCHE
T3 50-55 GeneOrGeneProduct denotes point
T4 56-64 GeneOrGeneProduct denotes mutation
T5 94-102 GeneOrGeneProduct denotes activity
T6 143-164 GeneOrGeneProduct denotes Butyrylcholinesterase
T7 229-235 GeneOrGeneProduct denotes muscle
T8 236-245 GeneOrGeneProduct denotes relaxants
T9 297-306 GeneOrGeneProduct denotes mutations
T10 314-318 GeneOrGeneProduct denotes BCHE
T11 343-347 GeneOrGeneProduct denotes case
T12 361-374 GeneOrGeneProduct denotes neuromuscular
T13 375-380 GeneOrGeneProduct denotes block
T14 449-454 GeneOrGeneProduct denotes novel
T15 455-459 GeneOrGeneProduct denotes BCHE
T16 592-600 GeneOrGeneProduct denotes mutation
T17 601-609 GeneOrGeneProduct denotes disrupts
T18 614-623 GeneOrGeneProduct denotes catalytic
T19 634-644 GeneOrGeneProduct denotes determines
T20 671-679 GeneOrGeneProduct denotes activity
T21 698-719 GeneOrGeneProduct denotes butyrylcholinesterase
T22 774-780 GeneOrGeneProduct denotes values
T23 837-845 GeneOrGeneProduct denotes atypical
T24 898-902 GeneOrGeneProduct denotes BChE
T25 953-958 GeneOrGeneProduct denotes has a
T26 959-966 GeneOrGeneProduct denotes reduced
T27 988-994 GeneOrGeneProduct denotes enzyme
T28 1014-1019 GeneOrGeneProduct denotes minor
T29 1020-1024 GeneOrGeneProduct denotes fast
T30 1032-1036 GeneOrGeneProduct denotes BChE
T31 1077-1084 GeneOrGeneProduct denotes albumin
T32 1099-1106 GeneOrGeneProduct denotes missing
T33 1176-1180 GeneOrGeneProduct denotes BChE
T34 1192-1196 GeneOrGeneProduct denotes pure
T35 1208-1216 GeneOrGeneProduct denotes behavior
T36 1249-1258 GeneOrGeneProduct denotes catalytic
T37 1295-1300 GeneOrGeneProduct denotes times
T38 1325-1333 GeneOrGeneProduct denotes atypical
T39 1334-1340 GeneOrGeneProduct denotes enzyme
T40 1392-1400 GeneOrGeneProduct denotes activity
T41 1497-1505 GeneOrGeneProduct denotes mutation
T42 1521-1531 GeneOrGeneProduct denotes disruption
T43 1544-1551 GeneOrGeneProduct denotes bonding
T44 1628-1633 GeneOrGeneProduct denotes other
T45 1650-1660 GeneOrGeneProduct denotes disruption
T46 1668-1677 GeneOrGeneProduct denotes catalytic
T47 1759-1765 GeneOrGeneProduct denotes enzyme
T48 1843-1850 GeneOrGeneProduct denotes reduced
T49 1914-1920 GeneOrGeneProduct denotes enzyme
T50 1954-1958 GeneOrGeneProduct denotes fast
T51 1966-1971 GeneOrGeneProduct denotes bands
T52 1991-1995 GeneOrGeneProduct denotes gels

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 117-122 DiseaseOrPhenotypicFeature denotes apnea D001049
T2 143-175 DiseaseOrPhenotypicFeature denotes Butyrylcholinesterase deficiency C537417
T3 206-211 DiseaseOrPhenotypicFeature denotes apnea D001049

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 28-32 GeneOrGeneProduct denotes BCHE
T2 143-164 GeneOrGeneProduct denotes Butyrylcholinesterase
T3 314-318 GeneOrGeneProduct denotes BCHE
T4 361-374 GeneOrGeneProduct denotes neuromuscular
T5 455-459 GeneOrGeneProduct denotes BCHE
T6 698-719 GeneOrGeneProduct denotes butyrylcholinesterase
T7 1077-1084 GeneOrGeneProduct denotes albumin
T8 1099-1106 GeneOrGeneProduct denotes missing

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 143-175 DiseaseOrPhenotypicFeature denotes Butyrylcholinesterase deficiency 0015270
T2 1443-1445 DiseaseOrPhenotypicFeature denotes MD 0010651
T3 1735-1737 DiseaseOrPhenotypicFeature denotes MD 0010651

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 117-122 DiseaseOrPhenotypicFeature denotes apnea D001049
T2 143-175 DiseaseOrPhenotypicFeature denotes Butyrylcholinesterase deficiency C537417
T3 206-211 DiseaseOrPhenotypicFeature denotes apnea D001049
T4 361-380 DiseaseOrPhenotypicFeature denotes neuromuscular block DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 117-122 DiseaseOrPhenotypicFeature denotes apnea D001049
T2 143-175 DiseaseOrPhenotypicFeature denotes Butyrylcholinesterase deficiency C537417
T3 206-211 DiseaseOrPhenotypicFeature denotes apnea D001049
T4 361-380 DiseaseOrPhenotypicFeature denotes neuromuscular block DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 128-141 ChemicalEntity denotes suxamethonium D013390|http://purl.obolibrary.org/obo/CHEBI_45652
T3 143-175 ChemicalEntity denotes Butyrylcholinesterase deficiency C537417
T4 229-245 ChemicalEntity denotes muscle relaxants ChemicalEntity
T5 247-260 ChemicalEntity denotes suxamethonium D013390|http://purl.obolibrary.org/obo/CHEBI_45652
T7 264-274 ChemicalEntity denotes mivacurium D000077590
T8 405-418 ChemicalEntity denotes suxamethonium D013390|http://purl.obolibrary.org/obo/CHEBI_45652
T10 698-719 ChemicalEntity denotes butyrylcholinesterase D002091
T11 725-743 ChemicalEntity denotes butyrylthiocholine D002092|http://purl.obolibrary.org/obo/CHEBI_41055
T13 745-748 ChemicalEntity denotes BTC D002092
T14 754-768 ChemicalEntity denotes benzoylcholine D001588|ChemicalEntity
T16 784-793 ChemicalEntity denotes dibucaine D003992|http://purl.obolibrary.org/obo/CHEBI_247956
T18 798-806 ChemicalEntity denotes fluoride D005459|http://purl.obolibrary.org/obo/CHEBI_17051
T20 1222-1225 ChemicalEntity denotes BTC D002092
T21 1286-1289 ChemicalEntity denotes BTC D002092
T22 1409-1422 ChemicalEntity denotes suxamethonium D013390|http://purl.obolibrary.org/obo/CHEBI_45652
T24 1535-1543 ChemicalEntity denotes hydrogen D006859|http://purl.obolibrary.org/obo/CHEBI_49637
T26 1991-1995 ChemicalEntity denotes gels D005782

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 279-287 OrganismTaxon denotes patients
T2 683-690 OrganismTaxon denotes patient
T3 945-952 OrganismTaxon denotes patient

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T26 1991-1995 ChemicalEntity denotes gels D005782
T24 1535-1543 ChemicalEntity denotes hydrogen http://purl.obolibrary.org/obo/CHEBI_49637|D006859
T22 1409-1422 ChemicalEntity denotes suxamethonium http://purl.obolibrary.org/obo/CHEBI_45652|D013390
T21 1286-1289 ChemicalEntity denotes BTC D002092
T20 1222-1225 ChemicalEntity denotes BTC D002092
T18 798-806 ChemicalEntity denotes fluoride http://purl.obolibrary.org/obo/CHEBI_17051|D005459
T16 784-793 ChemicalEntity denotes dibucaine http://purl.obolibrary.org/obo/CHEBI_247956|D003992
T14 754-768 ChemicalEntity denotes benzoylcholine ChemicalEntity|D001588
T13 745-748 ChemicalEntity denotes BTC D002092
T11 725-743 ChemicalEntity denotes butyrylthiocholine http://purl.obolibrary.org/obo/CHEBI_41055|D002092
T10 698-719 ChemicalEntity denotes butyrylcholinesterase D002091
T8 405-418 ChemicalEntity denotes suxamethonium http://purl.obolibrary.org/obo/CHEBI_45652|D013390
T7 264-274 ChemicalEntity denotes mivacurium D000077590
T5 247-260 ChemicalEntity denotes suxamethonium http://purl.obolibrary.org/obo/CHEBI_45652|D013390
T4 229-245 ChemicalEntity denotes muscle relaxants ChemicalEntity
T3 143-175 ChemicalEntity denotes Butyrylcholinesterase deficiency C537417
T1 128-141 ChemicalEntity denotes suxamethonium http://purl.obolibrary.org/obo/CHEBI_45652|D013390
T49719 1099-1106 GeneOrGeneProduct denotes missing
T49043 1077-1084 GeneOrGeneProduct denotes albumin
T6 698-719 GeneOrGeneProduct denotes butyrylcholinesterase
T26166 455-459 GeneOrGeneProduct denotes BCHE
T58069 361-374 GeneOrGeneProduct denotes neuromuscular
T53614 314-318 GeneOrGeneProduct denotes BCHE
T2 143-164 GeneOrGeneProduct denotes Butyrylcholinesterase
T44130 28-32 GeneOrGeneProduct denotes BCHE
T79380 361-380 DiseaseOrPhenotypicFeature denotes neuromuscular block DISEASE
T85129 206-211 DiseaseOrPhenotypicFeature denotes apnea D001049
T57186 143-175 DiseaseOrPhenotypicFeature denotes Butyrylcholinesterase deficiency C537417
T88658 117-122 DiseaseOrPhenotypicFeature denotes apnea D001049
T31189 945-952 OrganismTaxon denotes patient
T4769 683-690 OrganismTaxon denotes patient
T32204 279-287 OrganismTaxon denotes patients
T87511 1891-1902 SequenceVariant denotes p.Ala539Thr
T9 1880-1890 SequenceVariant denotes p.Asp70Gly
T98533 1868-1879 SequenceVariant denotes p.Ala204Asp
T91485 1506-1517 SequenceVariant denotes p.Val204Asp
T60846 1164-1175 SequenceVariant denotes p.Ala539Thr
T21164 1153-1163 SequenceVariant denotes p.Asp70Gly
T56352 1141-1152 SequenceVariant denotes p.Val204Asp
T42118 479-490 SequenceVariant denotes p.Val204Asp
T28157 469-477 SequenceVariant denotes c.695T>A
T10402 66-77 SequenceVariant denotes p.Val204Asp

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-142 Sentence denotes Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.
TextSentencer_T2 143-324 Sentence denotes Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
TextSentencer_T3 325-492 Sentence denotes Here, we report a case of prolonged neuromuscular block after administration of suxamethonium leading to the discovery of a novel BCHE variant (c.695T>A, p.Val204Asp).
TextSentencer_T4 493-666 Sentence denotes Inhibition studies, kinetic analysis and molecular dynamics were undertaken to understand how this mutation disrupts the catalytic triad and determines a "silent" phenotype.
TextSentencer_T5 667-862 Sentence denotes Low activity of patient plasma butyrylcholinesterase with butyrylthiocholine (BTC) and benzoylcholine, and values of dibucaine and fluoride numbers fit with heterozygous atypical silent genotype.
TextSentencer_T6 863-1107 Sentence denotes Electrophoretic analysis of plasma BChE of the proband and his mother showed that patient has a reduced amount of tetrameric enzyme in plasma and that minor fast-moving BChE components: monomer, dimer, and monomer-albumin conjugate are missing.
TextSentencer_T7 1108-1243 Sentence denotes Kinetic analysis showed that the p.Val204Asp/p.Asp70Gly-p.Ala539Thr BChE displays a pure Michaelian behavior with BTC as the substrate.
TextSentencer_T8 1244-1423 Sentence denotes Both catalytic parameters Km = 265 µM for BTC, two times higher than that of the atypical enzyme, and a low Vmax are consistent with the absence of activity against suxamethonium.
TextSentencer_T9 1424-1734 Sentence denotes Molecular dynamic (MD) simulations showed that the overall effect of the mutation p.Val204Asp is disruption of hydrogen bonding between Gln223 and Glu441, leading Ser198 and His438 to move away from each other with subsequent disruption of the catalytic triad functionality regardless of the type of substrate.
TextSentencer_T10 1735-1823 Sentence denotes MD also showed that the enzyme volume is increased, suggesting a pre-denaturation state.
TextSentencer_T11 1824-1996 Sentence denotes This fits with the reduced concentration of p.Ala204Asp/p.Asp70Gly-p.Ala539Thr tetrameric enzyme in the plasma and non-detectable fast moving-bands on electrophoresis gels.
T1 0-142 Sentence denotes Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.
T2 143-324 Sentence denotes Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.
T3 325-492 Sentence denotes Here, we report a case of prolonged neuromuscular block after administration of suxamethonium leading to the discovery of a novel BCHE variant (c.695T>A, p.Val204Asp).
T4 493-666 Sentence denotes Inhibition studies, kinetic analysis and molecular dynamics were undertaken to understand how this mutation disrupts the catalytic triad and determines a "silent" phenotype.
T5 667-862 Sentence denotes Low activity of patient plasma butyrylcholinesterase with butyrylthiocholine (BTC) and benzoylcholine, and values of dibucaine and fluoride numbers fit with heterozygous atypical silent genotype.
T6 863-1107 Sentence denotes Electrophoretic analysis of plasma BChE of the proband and his mother showed that patient has a reduced amount of tetrameric enzyme in plasma and that minor fast-moving BChE components: monomer, dimer, and monomer-albumin conjugate are missing.
T7 1108-1243 Sentence denotes Kinetic analysis showed that the p.Val204Asp/p.Asp70Gly-p.Ala539Thr BChE displays a pure Michaelian behavior with BTC as the substrate.
T8 1244-1423 Sentence denotes Both catalytic parameters Km = 265 µM for BTC, two times higher than that of the atypical enzyme, and a low Vmax are consistent with the absence of activity against suxamethonium.
T9 1424-1734 Sentence denotes Molecular dynamic (MD) simulations showed that the overall effect of the mutation p.Val204Asp is disruption of hydrogen bonding between Gln223 and Glu441, leading Ser198 and His438 to move away from each other with subsequent disruption of the catalytic triad functionality regardless of the type of substrate.
T10 1735-1823 Sentence denotes MD also showed that the enzyme volume is increased, suggesting a pre-denaturation state.
T11 1824-1996 Sentence denotes This fits with the reduced concentration of p.Ala204Asp/p.Asp70Gly-p.Ala539Thr tetrameric enzyme in the plasma and non-detectable fast moving-bands on electrophoresis gels.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 206-211 HP_0002104 denotes apnea

Allie

Id Subject Object Predicate Lexical cue
SS1_25054547_4_0 725-743 expanded denotes butyrylthiocholine
SS2_25054547_4_0 745-748 abbr denotes BTC
SS1_25054547_8_0 1424-1441 expanded denotes Molecular dynamic
SS2_25054547_8_0 1443-1445 abbr denotes MD
AE1_25054547_4_0 SS1_25054547_4_0 SS2_25054547_4_0 abbreviatedTo butyrylthiocholine,BTC
AE1_25054547_8_0 SS1_25054547_8_0 SS2_25054547_8_0 abbreviatedTo Molecular dynamic,MD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
25054547-2#130#134#gene590 455-459 gene590 denotes BCHE
25054547-2#26#55#diseaseC0520758 351-380 diseaseC0520758 denotes prolonged neuromuscular block
130#134#gene59026#55#diseaseC0520758 25054547-2#130#134#gene590 25054547-2#26#55#diseaseC0520758 associated_with BCHE,prolonged neuromuscular block

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 206-211 HP:0002104 denotes apnea
TI1 117-122 HP:0002104 denotes apnea

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 143-175 ORDO:132 denotes Butyrylcholinesterase deficiency