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PubMed:22740690 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-151 Sentence denotes X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
T2 152-318 Sentence denotes Mutations in the erythroid-specific aminolevulinic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial enzymatic activity.
T3 319-494 Sentence denotes Surprisingly, a patient with the classic XLSA phenotype had a novel exon 11 mutation encoding a recombinant enzyme (p.Met567Val) with normal activity, kinetics, and stability.
T4 495-694 Sentence denotes Similarly, both an expressed adjacent XLSA mutation, p.Ser568Gly, and a mutation (p.Phe557Ter) lacking the 31 carboxyl-terminal residues also had normal or enhanced activity, kinetics, and stability.
T5 695-843 Sentence denotes Because ALAS2 binds to the β subunit of succinyl-CoA synthetase (SUCLA2), the mutant proteins were tested for their ability to bind to this protein.
T6 844-979 Sentence denotes Wild type ALAS2 bound strongly to a SUCLA2 affinity column, but the adjacent XLSA mutant enzymes and the truncated mutant did not bind.
T7 980-1293 Sentence denotes In contrast, vitamin B6-responsive XLSA mutations p.Arg452Cys and p.Arg452His, with normal in vitro enzyme activity and stability, did not interfere with binding to SUCLA2 but instead had loss of positive cooperativity for succinyl-CoA binding, an increased K(m) for succinyl-CoA, and reduced vitamin B6 affinity.
T8 1294-1594 Sentence denotes Consistent with the association of SUCLA2 binding with in vivo ALAS2 activity, the p.Met567GlufsX2 mutant protein that causes X-linked protoporphyria bound strongly to SUCLA2, highlighting the probable role of an ALAS2-succinyl-CoA synthetase complex in the regulation of erythroid heme biosynthesis.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 143-149 gene:8803 denotes SUCLA2
T1 0-29 disease:C0221018 denotes X-linked sideroblastic anemia
T2 223-228 gene:212 denotes ALAS2
T3 267-271 disease:C0221018 denotes XLSA
T4 223-228 gene:212 denotes ALAS2
T5 236-265 disease:C0221018 denotes X-linked sideroblastic anemia
T6 1462-1468 gene:8803 denotes SUCLA2
T7 1429-1443 disease:C0162568 denotes protoporphyria
T8 1329-1335 gene:8803 denotes SUCLA2
T9 1429-1443 disease:C0162568 denotes protoporphyria
R1 T0 T1 associated_with SUCLA2,X-linked sideroblastic anemia
R2 T2 T3 associated_with ALAS2,XLSA
R3 T4 T5 associated_with ALAS2,X-linked sideroblastic anemia
R4 T6 T7 associated_with SUCLA2,protoporphyria
R5 T8 T9 associated_with SUCLA2,protoporphyria

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 236-244 HP_0001417 denotes X-linked
T2 245-265 HP_0001924 denotes sideroblastic anemia
T3 259-265 HP_0001903 denotes anemia
T4 285-298 HP_0001427 denotes mitochondrial
T5 1420-1428 HP_0001417 denotes X-linked

Allie

Id Subject Object Predicate Lexical cue
SS1_22740690_1_0 236-265 expanded denotes X-linked sideroblastic anemia
SS2_22740690_1_0 267-271 abbr denotes XLSA
AE1_22740690_1_0 SS1_22740690_1_0 SS2_22740690_1_0 abbreviatedTo X-linked sideroblastic anemia,XLSA

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
22740690-2#116#127#geners863223906 435-446 geners863223906 denotes p.Met567Val
22740690-2#41#45#diseaseC0221018 360-364 diseaseC0221018 denotes XLSA
116#127#geners86322390641#45#diseaseC0221018 22740690-2#116#127#geners863223906 22740690-2#41#45#diseaseC0221018 associated_with p.Met567Val,XLSA

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22740690-0#55#60#gene212 55-60 gene212 denotes ALAS2
22740690-0#143#149#gene8803 143-149 gene8803 denotes SUCLA2
22740690-0#0#29#diseaseC0221018 0-29 diseaseC0221018 denotes X-linked sideroblastic anemia
22740690-7#35#41#gene8803 1329-1335 gene8803 denotes SUCLA2
22740690-7#168#174#gene8803 1462-1468 gene8803 denotes SUCLA2
22740690-7#135#149#diseaseC0162568 1429-1443 diseaseC0162568 denotes protoporphyria
55#60#gene2120#29#diseaseC0221018 22740690-0#55#60#gene212 22740690-0#0#29#diseaseC0221018 associated_with ALAS2,X-linked sideroblastic anemia
143#149#gene88030#29#diseaseC0221018 22740690-0#143#149#gene8803 22740690-0#0#29#diseaseC0221018 associated_with SUCLA2,X-linked sideroblastic anemia
35#41#gene8803135#149#diseaseC0162568 22740690-7#35#41#gene8803 22740690-7#135#149#diseaseC0162568 associated_with SUCLA2,protoporphyria
168#174#gene8803135#149#diseaseC0162568 22740690-7#168#174#gene8803 22740690-7#135#149#diseaseC0162568 associated_with SUCLA2,protoporphyria

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 0-29 Disease denotes X-linked sideroblastic anemia http://purl.obolibrary.org/obo/MONDO_0010419
T2 236-265 Disease denotes X-linked sideroblastic anemia http://purl.obolibrary.org/obo/MONDO_0010419
T3 267-271 Disease denotes XLSA http://purl.obolibrary.org/obo/MONDO_0010419
T4 360-364 Disease denotes XLSA http://purl.obolibrary.org/obo/MONDO_0010419
T5 533-537 Disease denotes XLSA http://purl.obolibrary.org/obo/MONDO_0010419
T6 921-925 Disease denotes XLSA http://purl.obolibrary.org/obo/MONDO_0010419
T7 1015-1019 Disease denotes XLSA http://purl.obolibrary.org/obo/MONDO_0010419
T8 1429-1443 Disease denotes protoporphyria http://purl.obolibrary.org/obo/MONDO_0001676

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 23-29 OrganismTaxon denotes anemia 12939
T2 259-265 OrganismTaxon denotes anemia 12939
T3 335-342 OrganismTaxon denotes patient 9606

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 9-29 Phenotype denotes sideroblastic anemia HP:0001924
T2 245-265 Phenotype denotes sideroblastic anemia HP:0001924