PMC:4157140 / 42803-43602 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4157140","sourcedb":"PMC","sourceid":"4157140","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4157140","text":"Table 3 APOPT1 Mutations\nSubject Country of Origin Mutations a\nDNA Protein State Father/Mother SNP Frequency b\nS1c Italy c.235C\u003eT p.Arg79∗ homo F\u0026M hetc Ø\nS2c Italy c.235C\u003eT p.Arg79∗ homo F\u0026M het Ø\nS3 Turkey c.163−1G\u003eA Ex2 skipping;p.Val55_Lys120del homo NA Ø\nS4 Morocco Ex3 deletion Ex3 deletion;p.Glu121Valfs∗6 homo NA NA\nS5 Oman c.353T\u003eC p.Phe118Ser homo F\u0026M het Ø\nS6 Italy c.235C\u003eT p.Arg79∗ het M het Ø\nc.370_372del p.Glu124del het F het Ø\nAbbreviations are as follows: F, father; M, mother; homo, homozygous; het, heterozygous; NA, not available; Ø, not reported variant.\na Nomenclature according to HGVS; reference cDNA sequence: RefSeq NM_032374.3.\nb Frequency in dbSNP and EVS (Exome Variant Server) databases.\nc S1 and S2 are sisters.","divisions":[{"label":"label","span":{"begin":0,"end":7}},{"label":"caption","span":{"begin":9,"end":25}},{"label":"p","span":{"begin":9,"end":25}},{"label":"table","span":{"begin":26,"end":496}},{"label":"tr","span":{"begin":26,"end":67}},{"label":"th","span":{"begin":26,"end":34}},{"label":"th","span":{"begin":35,"end":53}},{"label":"th","span":{"begin":55,"end":67}},{"label":"tr","span":{"begin":68,"end":123}},{"label":"th","span":{"begin":68,"end":72}},{"label":"th","span":{"begin":73,"end":81}},{"label":"th","span":{"begin":83,"end":89}},{"label":"th","span":{"begin":91,"end":105}},{"label":"th","span":{"begin":107,"end":123}},{"label":"tr","span":{"begin":124,"end":173}},{"label":"td","span":{"begin":124,"end":127}},{"label":"td","span":{"begin":129,"end":134}},{"label":"td","span":{"begin":136,"end":144}},{"label":"td","span":{"begin":146,"end":154}},{"label":"td","span":{"begin":156,"end":160}},{"label":"td","span":{"begin":162,"end":170}},{"label":"td","span":{"begin":172,"end":173}},{"label":"tr","span":{"begin":174,"end":222}},{"label":"td","span":{"begin":174,"end":177}},{"label":"td","span":{"begin":179,"end":184}},{"label":"td","span":{"begin":186,"end":194}},{"label":"td","span":{"begin":196,"end":204}},{"label":"td","span":{"begin":206,"end":210}},{"label":"td","span":{"begin":212,"end":219}},{"label":"td","span":{"begin":221,"end":222}},{"label":"tr","span":{"begin":223,"end":290}},{"label":"td","span":{"begin":223,"end":225}},{"label":"td","span":{"begin":227,"end":233}},{"label":"td","span":{"begin":235,"end":245}},{"label":"td","span":{"begin":247,"end":277}},{"label":"td","span":{"begin":279,"end":283}},{"label":"td","span":{"begin":285,"end":287}},{"label":"td","span":{"begin":289,"end":290}},{"label":"tr","span":{"begin":291,"end":360}},{"label":"td","span":{"begin":291,"end":293}},{"label":"td","span":{"begin":295,"end":302}},{"label":"td","span":{"begin":304,"end":316}},{"label":"td","span":{"begin":318,"end":346}},{"label":"td","span":{"begin":348,"end":352}},{"label":"td","span":{"begin":354,"end":356}},{"label":"td","span":{"begin":358,"end":360}},{"label":"tr","span":{"begin":361,"end":410}},{"label":"td","span":{"begin":361,"end":363}},{"label":"td","span":{"begin":365,"end":369}},{"label":"td","span":{"begin":371,"end":379}},{"label":"td","span":{"begin":381,"end":392}},{"label":"td","span":{"begin":394,"end":398}},{"label":"td","span":{"begin":400,"end":407}},{"label":"td","span":{"begin":409,"end":410}},{"label":"tr","span":{"begin":411,"end":455}},{"label":"td","span":{"begin":411,"end":413}},{"label":"td","span":{"begin":415,"end":420}},{"label":"td","span":{"begin":422,"end":430}},{"label":"td","span":{"begin":432,"end":440}},{"label":"td","span":{"begin":442,"end":445}},{"label":"td","span":{"begin":447,"end":452}},{"label":"td","span":{"begin":454,"end":455}},{"label":"tr","span":{"begin":456,"end":496}},{"label":"td","span":{"begin":456,"end":468}},{"label":"td","span":{"begin":470,"end":481}},{"label":"td","span":{"begin":483,"end":486}},{"label":"td","span":{"begin":488,"end":493}},{"label":"td","span":{"begin":495,"end":496}},{"label":"table-wrap-foot","span":{"begin":497,"end":629}},{"label":"footnote","span":{"begin":497,"end":629}},{"label":"p","span":{"begin":497,"end":629}},{"label":"table-wrap-foot","span":{"begin":630,"end":709}},{"label":"footnote","span":{"begin":630,"end":709}},{"label":"label","span":{"begin":630,"end":631}},{"label":"p","span":{"begin":633,"end":709}},{"label":"table-wrap-foot","span":{"begin":710,"end":773}},{"label":"footnote","span":{"begin":710,"end":773}},{"label":"label","span":{"begin":710,"end":711}},{"label":"p","span":{"begin":713,"end":773}},{"label":"label","span":{"begin":774,"end":775}}],"tracks":[]}