DNA mutation | Region | Genotype | Predicted consequence | References | Origin |
---|---|---|---|---|---|
c.79 + 1G > A | intron 1 | hom | splice site mutation | 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 | 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 |