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PubMed:20106987 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
20106987_0 603-608 ProteinMutation denotes E624K rs387906607
20106987_1 1002-1007 ProteinMutation denotes E624K rs387906607
20106987_2 1070-1075 ProteinMutation denotes E624K rs387906607

sentences

Id Subject Object Predicate Lexical cue
T1 0-120 Sentence denotes Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
T2 121-295 Sentence denotes Ullrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resulting from either recessive or dominant mutations in genes encoding collagen VI.
T3 296-495 Sentence denotes Although the majority of the recessive UCMD cases have frameshift or nonsense mutations in COL6A1, COL6A2, or COL6A3, recessive structural mutations in the COL6A2 C-globular region are emerging also.
T4 496-563 Sentence denotes However, the underlying molecular mechanisms have remained elusive.
T5 564-708 Sentence denotes Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients.
T6 709-849 Sentence denotes The consequences of the mutations were investigated using fibroblasts from patients and cells stably transfected with the mutant constructs.
T7 850-1065 Sentence denotes In contrast to expectations based on the clinical severity of these two patients, secretion and assembly of collagen VI were moderately affected by the E624K mutation but severely impaired by the R876S substitution.
T8 1066-1293 Sentence denotes The E624K substitution altered the electrostatic potential of the region surrounding the metal ion-dependent adhesion site, resulting in a collagen VI network containing thick fibrils and spots with densely packed microfibrils.
T9 1294-1391 Sentence denotes The R876S mutation prevented the chain from assembling into triple-helical collagen VI molecules.
T10 1392-1580 Sentence denotes The minute amount of collagen VI secreted by the R876S fibroblasts was solely composed of a faster migrating chain corresponding to the C2a splice variant with an alternative C2 subdomain.
T11 1581-1671 Sentence denotes In transfected cells, the C2a splice variant was able to assemble into short microfibrils.
T12 1672-1839 Sentence denotes Together, the results suggest that the C2a splice variant may functionally compensate for the loss of the normal COL6A2 chain when mutations occur in the C2 subdomain.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 10-16 gene:1292 denotes COL6A2
T1 50-87 disease:C0410179 denotes Ullrich congenital muscular dystrophy
T2 596-602 gene:1292 denotes COL6A2
T3 694-698 disease:C0410179 denotes UCMD
T4 650-656 gene:1292 denotes COL6A2
T5 694-698 disease:C0410179 denotes UCMD
R1 T0 T1 associated_with COL6A2,Ullrich congenital muscular dystrophy
R2 T2 T3 associated_with COL6A2,UCMD
R3 T4 T5 associated_with COL6A2,UCMD

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 129-158 HP_0003741 denotes congenital muscular dystrophy
T2 140-158 HP_0003560 denotes muscular dystrophy
T3 1265-1272 HP_0011088 denotes densely

Allie

Id Subject Object Predicate Lexical cue
SS1_20106987_1_0 121-158 expanded denotes Ullrich congenital muscular dystrophy
SS2_20106987_1_0 160-164 abbr denotes UCMD
AE1_20106987_1_0 SS1_20106987_1_0 SS2_20106987_1_0 abbreviatedTo Ullrich congenital muscular dystrophy,UCMD

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20106987-4#39#44#geners387906607 603-608 geners387906607 denotes E624K
20106987-4#93#98#geners387906608 657-662 geners387906608 denotes R876S
20106987-4#130#134#diseaseC0410179 694-698 diseaseC0410179 denotes UCMD
20106987-7#4#9#geners387906607 1070-1075 geners387906607 denotes E624K
20106987-7#188#193#diseaseC0015230 1254-1259 diseaseC0015230 denotes spots
20106987-7#188#193#diseaseC0848332 1254-1259 diseaseC0848332 denotes spots
39#44#geners387906607130#134#diseaseC0410179 20106987-4#39#44#geners387906607 20106987-4#130#134#diseaseC0410179 associated_with E624K,UCMD
93#98#geners387906608130#134#diseaseC0410179 20106987-4#93#98#geners387906608 20106987-4#130#134#diseaseC0410179 associated_with R876S,UCMD
4#9#geners387906607188#193#diseaseC0015230 20106987-7#4#9#geners387906607 20106987-7#188#193#diseaseC0015230 associated_with E624K,spots
4#9#geners387906607188#193#diseaseC0848332 20106987-7#4#9#geners387906607 20106987-7#188#193#diseaseC0848332 associated_with E624K,spots

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20106987-0#10#16#gene1292 10-16 gene1292 denotes COL6A2
20106987-0#50#87#diseaseC0410179 50-87 diseaseC0410179 denotes Ullrich congenital muscular dystrophy
10#16#gene129250#87#diseaseC0410179 20106987-0#10#16#gene1292 20106987-0#50#87#diseaseC0410179 associated_with COL6A2,Ullrich congenital muscular dystrophy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 129-158 HP:0003741 denotes congenital muscular dystrophy
TI1 58-87 HP:0003741 denotes congenital muscular dystrophy

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 50-87 Disease denotes Ullrich congenital muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0000355|http://purl.obolibrary.org/obo/MONDO_0009681
T3 121-158 Disease denotes Ullrich congenital muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0000355|http://purl.obolibrary.org/obo/MONDO_0009681
T5 160-164 Disease denotes UCMD http://purl.obolibrary.org/obo/MONDO_0000355
T6 335-339 Disease denotes UCMD http://purl.obolibrary.org/obo/MONDO_0000355
T7 694-698 Disease denotes UCMD http://purl.obolibrary.org/obo/MONDO_0000355

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 58-87 Phenotype denotes congenital muscular dystrophy HP:0003560
T2 129-158 Phenotype denotes congenital muscular dystrophy HP:0003560

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 767-778 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 1254-1259 Body_part denotes spots http://purl.obolibrary.org/obo/UBERON_2002283
T3 1447-1458 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 767-778 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 1447-1458 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057