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PubMed:12746442 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
12746442_0 153-157 ProteinMutation denotes S75R rs1357942068
12746442_1 385-389 ProteinMutation denotes S75R rs1357942068
12746442_2 1037-1041 ProteinMutation denotes S75R rs1357942068

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-88 Sentence denotes Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
TextSentencer_T2 89-335 Sentence denotes This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina.
TextSentencer_T3 336-531 Sentence denotes Expression studies in Escherichia coli show that S75R and S201Y substitutions completely abolished the HMG-CoA lyase activity, whereas D204N reduced catalytic efficiency to 6.6% of the wild type.
TextSentencer_T4 532-647 Sentence denotes We also propose a three-dimensional model for human HMG-CoA lyase containing a (betaalpha)8 (TIM) barrel structure.
TextSentencer_T5 648-924 Sentence denotes The model is supported by the similarity with analogous TIM barrel structures of functionally related proteins, by the localization of catalytic amino acids at the active site, and by the coincidence between the shape of the substrate (HMG-CoA) and the predicted inner cavity.
TextSentencer_T6 925-1210 Sentence denotes The three novel mutations explain the lack of HMG-CoA lyase activity on the basis of the proposed structure: in S75R and S201Y because the new amino acid residues occlude the substrate cavity, and in D204N because the mutation alters the electrochemical environment of the active site.
TextSentencer_T7 1211-1375 Sentence denotes We also report the localization of all missense mutations reported to date and show that these mutations are located in the beta-sheets around the substrate cavity.
T1 0-88 Sentence denotes Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
T2 89-335 Sentence denotes This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina.
T3 336-531 Sentence denotes Expression studies in Escherichia coli show that S75R and S201Y substitutions completely abolished the HMG-CoA lyase activity, whereas D204N reduced catalytic efficiency to 6.6% of the wild type.
T4 532-647 Sentence denotes We also propose a three-dimensional model for human HMG-CoA lyase containing a (betaalpha)8 (TIM) barrel structure.
T5 648-924 Sentence denotes The model is supported by the similarity with analogous TIM barrel structures of functionally related proteins, by the localization of catalytic amino acids at the active site, and by the coincidence between the shape of the substrate (HMG-CoA) and the predicted inner cavity.
T6 925-1210 Sentence denotes The three novel mutations explain the lack of HMG-CoA lyase activity on the basis of the proposed structure: in S75R and S201Y because the new amino acid residues occlude the substrate cavity, and in D204N because the mutation alters the electrochemical environment of the active site.
T7 1211-1375 Sentence denotes We also report the localization of all missense mutations reported to date and show that these mutations are located in the beta-sheets around the substrate cavity.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 260-285 HP_0003344 denotes 3-methylglutaric aciduria
T2 277-285 HP_0012072 denotes aciduria

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 260-285 HP:0003344 denotes 3-methylglutaric aciduria

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 250-285 ORDO:20 denotes 3-hydroxy-3-methylglutaric aciduria

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 250-285 Disease denotes 3-hydroxy-3-methylglutaric aciduria http://purl.obolibrary.org/obo/MONDO_0009520

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 260-285 Phenotype denotes 3-methylglutaric aciduria HP:0003344

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 325-334 OrganismTaxon denotes Argentina 23204|260511
T3 358-374 OrganismTaxon denotes Escherichia coli 562
T4 578-583 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 917-923 Body_part denotes cavity http://purl.obolibrary.org/obo/UBERON_0002553
T2 1110-1116 Body_part denotes cavity http://purl.obolibrary.org/obo/UBERON_0002553
T3 1368-1374 Body_part denotes cavity http://purl.obolibrary.org/obo/UBERON_0002553