PMC:4375449 / 19749-20692 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4375449","sourcedb":"PMC","sourceid":"4375449","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4375449","text":"Table 2 PNKP Mutations that Caused AOA in Affected Members of the Eight Portuguese Families in Whom Mutations Were Found\nFamily cDNA (RefSeq NM_007254.3) Protein (RefSeq NP_009185.2)\n1 c.[1123G\u003eT];[1253_1269dupGGGTCGCCATCGACAAC] p.[(Gly375Trp)];[(Thr424Glyfs∗49)]\n2 c.[1123G\u003eT];[1123G\u003eT] p.[(Gly375Trp)];[(Gly375Trp)]\n3 c.[1221_1223del];[1549_1550insTGTACTGC] p.[(Thr408del)];[(Gln517Leufs∗24)]\n4 c.[1221_1223del];[1315_1329delinsGGGT] p.[(Thr408del)];[(Arg439Glyfs∗51)]a\n5 c.[1123G\u003eT];[1123G\u003eT] p.[(Gly375Trp)];[(Gly375Trp)]\n6 c.[1123G\u003eT(;)1322_1323insAGCCG] p.[(Gly375Trp(;)Gly442Alafs∗27)]\n7 c.[1123G\u003eT];[(1123G\u003eT)] p.[(Gly375Trp)];[(Gly375Trp)]\n8 c.[1123G\u003eT];[1123G\u003eT] p.[(Gly375Trp)];[(Gly375Trp)]\na One of the allelic mutations in F4 is formed by a complex allele that was initially not properly identified. Figure S3 shows the detailed view of the alignment at that position, clearly displaying the complex allele.","divisions":[{"label":"label","span":{"begin":0,"end":7}},{"label":"caption","span":{"begin":9,"end":121}},{"label":"p","span":{"begin":9,"end":121}},{"label":"table","span":{"begin":122,"end":723}},{"label":"tr","span":{"begin":122,"end":187}},{"label":"th","span":{"begin":122,"end":129}},{"label":"th","span":{"begin":130,"end":156}},{"label":"th","span":{"begin":158,"end":187}},{"label":"tr","span":{"begin":188,"end":270}},{"label":"td","span":{"begin":188,"end":189}},{"label":"td","span":{"begin":191,"end":234}},{"label":"td","span":{"begin":236,"end":270}},{"label":"tr","span":{"begin":271,"end":326}},{"label":"td","span":{"begin":271,"end":272}},{"label":"td","span":{"begin":274,"end":295}},{"label":"td","span":{"begin":297,"end":326}},{"label":"tr","span":{"begin":327,"end":405}},{"label":"td","span":{"begin":327,"end":328}},{"label":"td","span":{"begin":330,"end":369}},{"label":"td","span":{"begin":371,"end":405}},{"label":"tr","span":{"begin":406,"end":484}},{"label":"td","span":{"begin":406,"end":407}},{"label":"td","span":{"begin":409,"end":447}},{"label":"td","span":{"begin":449,"end":484}},{"label":"tr","span":{"begin":485,"end":540}},{"label":"td","span":{"begin":485,"end":486}},{"label":"td","span":{"begin":488,"end":509}},{"label":"td","span":{"begin":511,"end":540}},{"label":"tr","span":{"begin":541,"end":609}},{"label":"td","span":{"begin":541,"end":542}},{"label":"td","span":{"begin":544,"end":575}},{"label":"td","span":{"begin":577,"end":609}},{"label":"tr","span":{"begin":610,"end":667}},{"label":"td","span":{"begin":610,"end":611}},{"label":"td","span":{"begin":613,"end":636}},{"label":"td","span":{"begin":638,"end":667}},{"label":"tr","span":{"begin":668,"end":723}},{"label":"td","span":{"begin":668,"end":669}},{"label":"td","span":{"begin":671,"end":692}},{"label":"td","span":{"begin":694,"end":723}},{"label":"label","span":{"begin":724,"end":725}}],"tracks":[]}