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PubMed:16601880 JSONTXT

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tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 840-848 DNAMutation:c|DEL|28|C denotes c.28delC
T2 850-860 DNAMutation:c|DEL|1175|C denotes c.1175delC
T3 862-872 DNAMutation:c|DEL|2186|C denotes c.2186delC
T4 874-884 DNAMutation:c|DEL|2422|A denotes c.2422delA
T5 909-924 DNAMutation:c|INS|1002_1003|T denotes c.1002_1003insT
T6 949-967 DNAMutation:c|INS|1285_1286|CAAA denotes c.1285_1286insCAAA
T7 994-1021 DNAMutation:c|INDEL|2153_2155|TCCTGGTTTA denotes c.2153_2155delinsTCCTGGTTTA
T8 1049-1056 ProteinMutation:p|SUB|E|153|X denotes p.E153X
T9 1058-1065 ProteinMutation:p|SUB|R|236|X denotes p.R236X
T10 1067-1074 ProteinMutation:p|SUB|E|270|X denotes p.E270X
T11 1076-1083 ProteinMutation:p|SUB|R|337|X denotes p.R337X
T12 1085-1092 ProteinMutation:p|SUB|R|424|X denotes p.R424X
T13 1126-1138 DNAMutation:c|SUB|G|861+1|T denotes c.861+1G > T
T14 1140-1153 DNAMutation:c|SUB|C|1402-1|G denotes c.1402-1C > G
T15 1155-1168 DNAMutation:c|SUB|G|2316-1|A denotes c.2316-1G > A
T16 1170-1183 DNAMutation:c|SUB|G|2919+1|A denotes c.2919+1G > A
T17 1272-1285 DNAMutation:c|SUB|G|2838+5|A denotes c.2838+5G > A
T18 1397-1404 ProteinMutation:p|SUB|T|269|M denotes p.T269M
T19 1406-1413 ProteinMutation:p|SUB|R|461|Q denotes p.R461Q
T20 1415-1422 ProteinMutation:p|SUB|G|771|R denotes p.G771R
T21 1495-1502 ProteinMutation:p|SUB|S|132|W denotes p.S132W
T22 1504-1511 ProteinMutation:p|SUB|Y|138|F denotes p.Y138F
T23 1513-1520 ProteinMutation:p|SUB|G|171|A denotes p.G171A
T24 1522-1529 ProteinMutation:p|SUB|T|187|K denotes p.T187K
T25 1531-1538 ProteinMutation:p|SUB|R|212|K denotes p.R212K
T26 1540-1547 ProteinMutation:p|SUB|T|269|M denotes p.T269M
T27 1549-1556 ProteinMutation:p|SUB|R|373|W denotes p.R373W
T28 1558-1565 ProteinMutation:p|SUB|I|440|N denotes p.I440N
T29 1567-1574 ProteinMutation:p|SUB|R|461|Q denotes p.R461Q
T30 1576-1583 ProteinMutation:p|SUB|N|533|Y denotes p.N533Y
T31 1585-1592 ProteinMutation:p|SUB|C|644|F denotes p.C644F
T32 1594-1601 ProteinMutation:p|SUB|H|651|R denotes p.H651R
T33 1603-1610 ProteinMutation:p|SUB|V|705|M denotes p.V705M
T34 1612-1619 ProteinMutation:p|SUB|N|732|K denotes p.N732K
T35 1621-1628 ProteinMutation:p|SUB|G|771|R denotes p.G771R
T36 1630-1637 ProteinMutation:p|SUB|H|775|R denotes p.H775R
T37 1639-1646 ProteinMutation:p|SUB|T|830|M denotes p.T830M
T38 1648-1655 ProteinMutation:p|SUB|A|841|P denotes p.A841P
T39 1657-1664 ProteinMutation:p|SUB|D|880|V denotes p.D880V
T40 1666-1673 ProteinMutation:p|SUB|S|957|P denotes p.S957P
T41 1678-1685 ProteinMutation:p|SUB|R|966|G denotes p.R966G
T42 1857-1864 ProteinMutation:p|SUB|Y|138|F denotes p.Y138F
T43 1866-1873 ProteinMutation:p|SUB|T|269|M denotes p.T269M
T44 1878-1885 ProteinMutation:p|SUB|E|153|X denotes p.E153X
T45 1965-1972 ProteinMutation:p|SUB|V|705|M denotes p.V705M
T46 1977-1984 ProteinMutation:p|SUB|R|212|K denotes p.R212K

DisGeNET

Id Subject Object Predicate Lexical cue
T0 29-33 gene:2731 denotes GLDC
T1 69-91 disease:C0751748 denotes glycine encephalopathy
R1 T0 T1 associated_with GLDC,glycine encephalopathy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16601880-0#29#33#gene2731 497-501 gene2731 denotes GLDC
16601880-0#69#91#diseaseC0751748 554-1442 diseaseC0751748 denotes g denaturing high-performance liquid chromatography (DHPLC) and sequencing. Forty different gene alterations were identified, confirming the large molecular heterogeneity of the GLDC gene. Eighteen alterations were clearly disease-causing: two large deletions, four one-base deletions (c.28delC, c.1175delC, c.2186delC, c.2422delA), one 1-base insertion (c.1002_1003insT), one 4-base insertion (c.1285_1286insCAAA), one insertion/deletion (c.2153_2155delinsTCCTGGTTTA), five nonsense mutations (p.E153X, p.R236X, p.E270X, p.R337X, p.R424X) and four splice site mutations (c.861+1G > T, c.1402-1C > G, c.2316-1G > A, c.2919+1G > A). Additionally, we identified one intronic mutation outside the consensus splice sites (c.2838+5G > A) and 21 nucleotide substitutions leading to amino acid change (including three previously described mutations: p.T269M, p.R461Q, p.G771R), the pathogenicity
29#33#gene273169#91#diseaseC0751748 16601880-0#29#33#gene2731 16601880-0#69#91#diseaseC0751748 associated_with GLDC,"g denaturing high-performance liquid chromatography (DHPLC) and sequencing. Forty different gene alterations were identified, confirming the large molecular heterogeneity of the GLDC gene. Eighteen alterations were clearly disease-causing: two large deletions, four one-base deletions (c.28delC, c.1175delC, c.2186delC, c.2422delA), one 1-base insertion (c.1002_1003insT), one 4-base insertion (c.1285_1286insCAAA), one insertion/deletion (c.2153_2155delinsTCCTGGTTTA), five nonsense mutations (p.E153X, p.R236X, p.E270X, p.R337X, p.R424X) and four splice site mutations (c.861+1G > T, c.1402-1C > G, c.2316-1G > A, c.2919+1G > A). Additionally, we identified one intronic mutation outside the consensus splice sites (c.2838+5G > A) and 21 nucleotide substitutions leading to amino acid change (including three previously described mutations: p.T269M, p.R461Q, p.G771R), the pathogenicity"