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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
6323533-15#139#152#geners11542041 2287-2300 geners11542041 denotes Arg158----Cys
6323533-15#37#57#diseaseC0020557 2185-2205 diseaseC0020557 denotes hypertriglyceridemia
139#152#geners1154204137#57#diseaseC0020557 6323533-15#139#152#geners11542041 6323533-15#37#57#diseaseC0020557 associated_with Arg158----Cys,hypertriglyceridemia

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-58 Sentence denotes A novel electrophoretic variant of human apolipoprotein E.
TextSentencer_T2 59-116 Sentence denotes Identification and characterization of apolipoprotein E1.
TextSentencer_T3 117-229 Sentence denotes A new apolipoprotein E (apo E) phenotype has been demonstrated in a Finnish hypertriglyceridemic subject (R.M.).
TextSentencer_T4 230-346 Sentence denotes At the time of this study, R.M.'s plasma triglyceride and cholesterol levels were 1,021 and 230 mg/dl, respectively.
TextSentencer_T5 347-490 Sentence denotes The subject's apo E isoelectric focusing pattern was characterized by two major bands, one in the E3 position and the other in the E1 position.
TextSentencer_T6 491-575 Sentence denotes Normally the E1 position is occupied by sialylated derivatives of apo E4, E3, or E2.
TextSentencer_T7 576-694 Sentence denotes The E1 band of subject R.M. is not a sialylated form, however, because it was not affected by neuraminidase digestion.
TextSentencer_T8 695-921 Sentence denotes The identity of the E1 variant as a genetically determined structure was established by amino acid and partial sequence analyses, confirming that the variant is an example of a previously uncharacterized apo E phenotype, E3/1.
TextSentencer_T9 922-1046 Sentence denotes Both cysteamine modification and amino acid analysis demonstrated that this variant contains two cysteine residues per mole.
TextSentencer_T10 1047-1260 Sentence denotes Sequence analysis of two cyanogen bromide fragments and one tryptic fragment of the apo E3/1 showed that it differs from E2(Arg158----Cys) at residue 127, where an aspartic acid residue is substituted for glycine.
TextSentencer_T11 1261-1434 Sentence denotes This single amino acid interchange is sufficient to account for the one-charge difference observed on isoelectric focusing gels between E2(Arg158----Cys) and the E1 variant.
TextSentencer_T12 1435-1501 Sentence denotes The variant has been designated E1 (Gly127----Asp, Arg158----Cys).
TextSentencer_T13 1502-1715 Sentence denotes When compared with apo E3, the E1 variant demonstrated reduced ability to compete with 125I-LDL for binding to LDL (apo B,E) receptors on cultured fibroblasts (approximately 4% of the amount of binding of apo E3).
TextSentencer_T14 1716-1780 Sentence denotes This defective binding is similar to that of E2-(Arg158----Cys).
TextSentencer_T15 1781-1927 Sentence denotes Therefore, the binding defect of the variant is probably due to the presence of cysteine at residue 158, rather than aspartic acid at residue 127.
TextSentencer_T16 1928-2058 Sentence denotes In contrast, the apo E3 isoform from this subject demonstrated normal binding activity, indicating that it has a normal structure.
TextSentencer_T17 2059-2147 Sentence denotes In family studies, the vertical transmission of the apo E1 variant has been established.
TextSentencer_T18 2148-2310 Sentence denotes It is not yet clear, however, if the hypertriglyceridemia observed in the proband is associated with the presence of the E1(Gly127----Asp, Arg158----Cys) variant.
T1 0-58 Sentence denotes A novel electrophoretic variant of human apolipoprotein E.
T2 59-116 Sentence denotes Identification and characterization of apolipoprotein E1.
T3 117-229 Sentence denotes A new apolipoprotein E (apo E) phenotype has been demonstrated in a Finnish hypertriglyceridemic subject (R.M.).
T4 230-346 Sentence denotes At the time of this study, R.M.'s plasma triglyceride and cholesterol levels were 1,021 and 230 mg/dl, respectively.
T5 347-490 Sentence denotes The subject's apo E isoelectric focusing pattern was characterized by two major bands, one in the E3 position and the other in the E1 position.
T6 491-575 Sentence denotes Normally the E1 position is occupied by sialylated derivatives of apo E4, E3, or E2.
T7 576-694 Sentence denotes The E1 band of subject R.M. is not a sialylated form, however, because it was not affected by neuraminidase digestion.
T8 695-921 Sentence denotes The identity of the E1 variant as a genetically determined structure was established by amino acid and partial sequence analyses, confirming that the variant is an example of a previously uncharacterized apo E phenotype, E3/1.
T9 922-1046 Sentence denotes Both cysteamine modification and amino acid analysis demonstrated that this variant contains two cysteine residues per mole.
T10 1047-1260 Sentence denotes Sequence analysis of two cyanogen bromide fragments and one tryptic fragment of the apo E3/1 showed that it differs from E2(Arg158----Cys) at residue 127, where an aspartic acid residue is substituted for glycine.
T11 1261-1434 Sentence denotes This single amino acid interchange is sufficient to account for the one-charge difference observed on isoelectric focusing gels between E2(Arg158----Cys) and the E1 variant.
T12 1435-1501 Sentence denotes The variant has been designated E1 (Gly127----Asp, Arg158----Cys).
T13 1502-1715 Sentence denotes When compared with apo E3, the E1 variant demonstrated reduced ability to compete with 125I-LDL for binding to LDL (apo B,E) receptors on cultured fibroblasts (approximately 4% of the amount of binding of apo E3).
T14 1716-1780 Sentence denotes This defective binding is similar to that of E2-(Arg158----Cys).
T15 1781-1927 Sentence denotes Therefore, the binding defect of the variant is probably due to the presence of cysteine at residue 158, rather than aspartic acid at residue 127.
T16 1928-2058 Sentence denotes In contrast, the apo E3 isoform from this subject demonstrated normal binding activity, indicating that it has a normal structure.
T17 2059-2147 Sentence denotes In family studies, the vertical transmission of the apo E1 variant has been established.
T18 2148-2310 Sentence denotes It is not yet clear, however, if the hypertriglyceridemia observed in the proband is associated with the presence of the E1(Gly127----Asp, Arg158----Cys) variant.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1041-1045 http://purl.obolibrary.org/obo/UBERON_1000010 denotes mole

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 2185-2205 HP:0002155 denotes hypertriglyceridemia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 1481-1484 ORDO:163699 denotes Asp
AB2 2282-2285 ORDO:163699 denotes Asp

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1041-1045 http://purl.obolibrary.org/obo/UBERON_1000010 denotes mole