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Table1 Summary mutations in the GIF gene according to previous literature (add to page 5 line 19)

From: Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

DNA mutation Region Genotype Predicted consequence References Origin
c.79 + 1G > A intron 1 hom splice site mutation Tanner et al. 2005 [5], Tanner et al. 2012 [3] France, Norway, USA
c.79 + 1G > A & del Intron 8 to distal of 3′-end intron 1 & del comp het splice site mutation & partial gene deletion Tanner et al. 2012 [3] Norway
c.79 + 1G > A & c.137C > T intron 1 & exon 2 comp het splice site mutation & p.Ser46Leu Tanner et al. 2012 [3] USA (Western Europe?)
c.79 + 1G > A & c.290 T > C intron 1 & exon 3 comp het splice site mutation & p.Met97Thr Overgaard et al. 2010 [10] USA (Western Europe?)
c.79 + 1G > A & c.673A > C intron 1 & exon 5 comp het splice site mutation & p.Ser225Arg Tanner et al. 2012 [3] Siberia
c.80-1G > A intron 1 hom splice site mutation Tanner et al. 2005 [5] Kuwaiti
c.137C > T exon 2 hom p.Ser46Leu Tanner et al. 2005 [5], Tanner et al. 2012 [3] Turkey
c.161delA exon 2 hom p.Asn54fs Tanner et al. 2005 [5] Turkey
c.183_186delGAAT exon 2 hom p.Met61fs Yassin et al. 2004 [6], Tanner et al. 2005 [5], Ament et al. 2009 [8] UK (Jamaican), African American
c.183_186delGAAT & c.659 T > C exon 2 & exon 5 comp het p.Met61fs & p.Ile220Thr Ament et al. 2009 [8] USA (African, European)
c.256 + 2 T > G & c.659 T > C intron 2 & exon 5 comp het splice site mutation & p.Ile220Thr García Jiménez et al. 2008 [12] Spain
c.290 T > C & ? exon 3 & ? comp het p.Met97Thr & ? Tanner et al. 2012 [3] Finland
GIF c.290 T > C & FUT2 rs601338 461GG variant   comp het GIF p.Met97Thr & FUT2 secretor variant Chery et al. 2013 [13] France
c.431_438delAGAAGAAC & c.974_975insG exon 4 & exon7 comp het p.Gln144fs & p.Val325fs Tanner et al. 2012 [3] Austria
c.435_437delGAA & FUT2 rs601338 461GG variant   comp het p.Lys145_Asn146delinsAsn & FUT2 secretor variant Chery et al. 2013 [13] France
c.469 T > C & ? exon 4 & ? comp het p.Phe157Leu & ? Tanner et al. 2012 [3] USA (Lebanese)
c.685G > A exon 5 hom p.Ala229Thr Tanner et al. 2012 [3] Turkey, Germany (Lebanese)
c.938C > T & ? exon 7 & ? comp het p.Thr313Ile & ? Tanner et al. 2012 [3] Israel (Arabic)
c.1073 + 5G > A intron 7 hom splice site mutation Sturm et al. 2013 [11] USA (Chaldean)
c.1175_1176insT exon 8 hom p.Thr393fs Tanner et al. 2005 [5] Turkey
c.1222G > A exon 9 hom p.Glu408Lys Lund Leunbach et al. 2011 Danish