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PubMed:18252712 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
18252712_0 1129-1144 ProteinMutation denotes -62 with Ile (a rs800292

test-210614

Id Subject Object Predicate Lexical cue proteinmutation
18252712_0 1129-1144 ProteinMutation denotes -62 with Ile (a rs800292

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 281-284 DiseaseOrPhenotypicFeature denotes FH1 0007080
T2 302-305 DiseaseOrPhenotypicFeature denotes FH1 0007080
T3 404-407 DiseaseOrPhenotypicFeature denotes FH1 0007080
T4 441-444 DiseaseOrPhenotypicFeature denotes FH1 0007080
T5 451-454 DiseaseOrPhenotypicFeature denotes FH2 0011576
T6 1212-1244 DiseaseOrPhenotypicFeature denotes age-related macular degeneration 0005150
T7 1249-1270 DiseaseOrPhenotypicFeature denotes dense deposit disease 0019736
T8 1466-1500 DiseaseOrPhenotypicFeature denotes atypical hemolytic uremic syndrome 0016244
T9 1580-1583 DiseaseOrPhenotypicFeature denotes FH1 0007080

sentences

Id Subject Object Predicate Lexical cue
T1 0-128 Sentence denotes Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations.
T2 129-192 Sentence denotes Factor H is a regulatory glycoprotein of the complement system.
T3 193-386 Sentence denotes We expressed the three N-terminal complement control protein modules of human factor H (FH1-3) and confirmed FH1-3 to be the minimal unit with cofactor activity for C3b proteolysis by factor I.
T4 387-531 Sentence denotes We reconstructed FH1-3 from NMR-derived structures of FH1-2 and FH2-3 revealing an approximately 105-A-long rod-like arrangement of the modules.
T5 532-717 Sentence denotes In structural comparisons with other C3b-engaging proteins, factor H module 3 most closely resembles factor B module 3, consistent with factor H competing with factor B for binding C3b.
T6 718-992 Sentence denotes Factor H modules 1, 2, and 3 each has a similar backbone structure to first, second, and third modules, respectively, of functional sites in decay accelerating factor and complement receptor type 1; the equivalent intermodular tilt and twist angles are also broadly similar.
T7 993-1102 Sentence denotes Resemblance between molecular surfaces is closest for first modules but absent in the case of second modules.
T8 1103-1400 Sentence denotes Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protective for age-related macular degeneration and dense deposit disease) causes rearrangements within the module 1 core and increases thermal stability but does not disturb the interface with module 2.
T9 1401-1750 Sentence denotes Replacement of partially exposed (in module 1) Arg-53 by His (an atypical hemolytic uremic syndrome-linked mutation) did not impair structural integrity at 37 degrees C, but this FH1-2 mutant was less stable at higher temperatures; furthermore, chemical shift differences indicated potential for small structural changes at the module 1-2 interface.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1145-1153 gene:3075 denotes factor H
T1 1212-1244 disease:C0242383 denotes age-related macular degeneration
T2 1145-1153 gene:3075 denotes factor H
T3 1249-1270 disease:C0268743 denotes dense deposit disease
R1 T0 T1 associated_with factor H,age-related macular degeneration
R2 T2 T3 associated_with factor H,dense deposit disease

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
18252712-7#23#38#geners800292 1126-1141 geners800292 denotes Val-62 with Ile
18252712-7#109#141#diseaseC0242383 1212-1244 diseaseC0242383 denotes age-related macular degeneration
18252712-7#146#167#diseaseC0268743 1249-1270 diseaseC0268743 denotes dense deposit disease
23#38#geners800292109#141#diseaseC0242383 18252712-7#23#38#geners800292 18252712-7#109#141#diseaseC0242383 associated_with Val-62 with Ile,age-related macular degeneration
23#38#geners800292146#167#diseaseC0268743 18252712-7#23#38#geners800292 18252712-7#146#167#diseaseC0268743 associated_with Val-62 with Ile,dense deposit disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18252712-7#42#50#gene3075 1145-1153 gene3075 denotes factor H
18252712-7#109#141#diseaseC0242383 1212-1244 diseaseC0242383 denotes age-related macular degeneration
18252712-7#146#167#diseaseC0268743 1249-1270 diseaseC0268743 denotes dense deposit disease
42#50#gene3075109#141#diseaseC0242383 18252712-7#42#50#gene3075 18252712-7#109#141#diseaseC0242383 associated_with factor H,age-related macular degeneration
42#50#gene3075146#167#diseaseC0268743 18252712-7#42#50#gene3075 18252712-7#146#167#diseaseC0268743 associated_with factor H,dense deposit disease

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 281-284 Disease denotes FH1 http://purl.obolibrary.org/obo/MONDO_0007080
T2 302-305 Disease denotes FH1 http://purl.obolibrary.org/obo/MONDO_0007080
T3 404-407 Disease denotes FH1 http://purl.obolibrary.org/obo/MONDO_0007080
T4 441-444 Disease denotes FH1 http://purl.obolibrary.org/obo/MONDO_0007080
T5 451-454 Disease denotes FH2 http://purl.obolibrary.org/obo/MONDO_0011576
T6 1212-1244 Disease denotes age-related macular degeneration http://purl.obolibrary.org/obo/MONDO_0005150
T7 1249-1270 Disease denotes dense deposit disease http://purl.obolibrary.org/obo/MONDO_0019736
T8 1466-1500 Disease denotes atypical hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0016244
T9 1580-1583 Disease denotes FH1 http://purl.obolibrary.org/obo/MONDO_0007080

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 1224-1244 Phenotype denotes macular degeneration HP:0000608
T2 1249-1270 Phenotype denotes dense deposit disease HP:0004746
T3 1475-1500 Phenotype denotes hemolytic uremic syndrome HP:0005575

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 265-270 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 495-498 Body_part denotes rod http://purl.obolibrary.org/obo/CL_0000604
T2 766-774 Body_part denotes backbone http://purl.obolibrary.org/obo/UBERON_0001130

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 495-498 Cell denotes rod http://purl.obolibrary.org/obo/CL:0000604