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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