Table 1.

Genetic variants of the 7 vitamin K-dependent proteins in our study population

Nucleotide sequence
Genotype
Allele frequency
Gene
Location
Position*
Reference (Re)
Mutant (Mu)
Amino acid substitution
Re/Re
Re/Mu
Mu/Mu
Re
Mu
Factor II            
   (Prothrombin)   intron 4   +36   acatGgagg   acatAgagg   —   36   9   0   0.90   0.10  
  intron 5   +90   tcctCttcc   tcctGttcc   —   3   19   23   0.28   0.72  
  exon 6   494   accaCggga   accaTggga  Thr165Met  8   18   19   0.38   0.62  
  intron 7   –69   ggaaCtggg   ggaaTtggg   —   19   18   8   0.62   0.38  
  exon 12   1602   ggccGgtct   ggccAgtct  Pro534Pro  36   9   0   0.90   0.10  
  intron 13   +88   gcagAggaa   gcagGggaa   —   1   8   36   0.11   0.89  
Factor VII   promoter   –402   atacGgtct   atacAgtct   —   14   22   9   0.56   0.44  
  promoter   –401   tacgGtctt   tacgTtctt   —   40   5   0   0.94   0.06  
  promoter   –323   (cctatatcct)0  (cctatatcct)1  —   40   5   0   0.94   0.06  
  promoter   –122   ggtgTtcag   ggtgCtcag   —   40   5   0   0.94   0.06  
  intron 4   –58   ggggGctgg   ggggActgg   —   40   5   0   0.94   0.06  
  exon 5   525   gccaCgagg   gccaTgagg  His115His  40   5   0   0.94   0.06  
  exon 5   549   cagaCgggg   cagaTgggg  Asp123Asp  44   1   0   0.99   0.01  
  intron 7   –788   (37-bp repeat)6  (37-bp repeat)7  —   36   0   9   0.80   0.20  
  intron 7   –746   ctctTccct   ctctCccct   —   16   20   9   0.58   0.42  
  intron 7   –206   ctccGctgt   ctccActgt   —   41   1   3   0.92   0.08  
  intron 7   –20   ctgaGgggg   ctgaAgggg   —   41   4   0   0.96   0.04  
  exon 8   1238   taccGgggc   taccAgggc  Arg353Gln  41   4   0   0.96   0.04  
Factor IX   intron 8   +1401   ctttTtgtg   ctttCtgtg   —   40   3   2   0.92   0.08  
Factor X   exon 7   792   gaacCattc   gaacTattc  Thr264Thr  3   21   21   0.30   0.70  
Protein C   exon 9   891   ccgaCaatg   ccgaTaatg  Asp297Asp  43   2   0   0.98   0.02  
Protein S   intron 12   +3   gtaaTagat   gtaaCagat   —   32   12   1   0.84   0.16  
  exon 15   2001   gtccAtcag   gtccGtcag  Pro667Pro  7   20   18   0.38   0.62  
GGC   intron 2   –67   gtgcAgtga   gtgcTgtga   —   21   23   1   0.72   0.28  
  intron 2   –33   ccccGcaca   ccccAcaca   —   31   14   0   0.84   0.16  
  intron 6   –152   (CAA)10  (CAA)11  —   15   24   3   0.62   0.34  
   –152    (CAA)13  —    3   0    0.03  
  exon 9   1218   cccgTtccc   cccgCtccc  Arg406Arg  4   21   20   0.32   0.68  
  exon 9   1242   tcacCtacc   tcacTtacc  Thr414Thr  40   5   0   0.94   0.06  
 		 exon 10
 		 1378
 		 taatGtcac
 		 taatAtcac
 		Val460Ile
 		 43
 		 2
 		 0
 		 0.98
 		 0.02
 
Nucleotide sequence
Genotype
Allele frequency
Gene
Location
Position*
Reference (Re)
Mutant (Mu)
Amino acid substitution
Re/Re
Re/Mu
Mu/Mu
Re
Mu
Factor II            
   (Prothrombin)   intron 4   +36   acatGgagg   acatAgagg   —   36   9   0   0.90   0.10  
  intron 5   +90   tcctCttcc   tcctGttcc   —   3   19   23   0.28   0.72  
  exon 6   494   accaCggga   accaTggga  Thr165Met  8   18   19   0.38   0.62  
  intron 7   –69   ggaaCtggg   ggaaTtggg   —   19   18   8   0.62   0.38  
  exon 12   1602   ggccGgtct   ggccAgtct  Pro534Pro  36   9   0   0.90   0.10  
  intron 13   +88   gcagAggaa   gcagGggaa   —   1   8   36   0.11   0.89  
Factor VII   promoter   –402   atacGgtct   atacAgtct   —   14   22   9   0.56   0.44  
  promoter   –401   tacgGtctt   tacgTtctt   —   40   5   0   0.94   0.06  
  promoter   –323   (cctatatcct)0  (cctatatcct)1  —   40   5   0   0.94   0.06  
  promoter   –122   ggtgTtcag   ggtgCtcag   —   40   5   0   0.94   0.06  
  intron 4   –58   ggggGctgg   ggggActgg   —   40   5   0   0.94   0.06  
  exon 5   525   gccaCgagg   gccaTgagg  His115His  40   5   0   0.94   0.06  
  exon 5   549   cagaCgggg   cagaTgggg  Asp123Asp  44   1   0   0.99   0.01  
  intron 7   –788   (37-bp repeat)6  (37-bp repeat)7  —   36   0   9   0.80   0.20  
  intron 7   –746   ctctTccct   ctctCccct   —   16   20   9   0.58   0.42  
  intron 7   –206   ctccGctgt   ctccActgt   —   41   1   3   0.92   0.08  
  intron 7   –20   ctgaGgggg   ctgaAgggg   —   41   4   0   0.96   0.04  
  exon 8   1238   taccGgggc   taccAgggc  Arg353Gln  41   4   0   0.96   0.04  
Factor IX   intron 8   +1401   ctttTtgtg   ctttCtgtg   —   40   3   2   0.92   0.08  
Factor X   exon 7   792   gaacCattc   gaacTattc  Thr264Thr  3   21   21   0.30   0.70  
Protein C   exon 9   891   ccgaCaatg   ccgaTaatg  Asp297Asp  43   2   0   0.98   0.02  
Protein S   intron 12   +3   gtaaTagat   gtaaCagat   —   32   12   1   0.84   0.16  
  exon 15   2001   gtccAtcag   gtccGtcag  Pro667Pro  7   20   18   0.38   0.62  
GGC   intron 2   –67   gtgcAgtga   gtgcTgtga   —   21   23   1   0.72   0.28  
  intron 2   –33   ccccGcaca   ccccAcaca   —   31   14   0   0.84   0.16  
  intron 6   –152   (CAA)10  (CAA)11  —   15   24   3   0.62   0.34  
   –152    (CAA)13  —    3   0    0.03  
  exon 9   1218   cccgTtccc   cccgCtccc  Arg406Arg  4   21   20   0.32   0.68  
  exon 9   1242   tcacCtacc   tcacTtacc  Thr414Thr  40   5   0   0.94   0.06  
 		 exon 10
 		 1378
 		 taatGtcac
 		 taatAtcac
 		Val460Ile
 		 43
 		 2
 		 0
 		 0.98
 		 0.02
 

The reference allele for each gene had the following GenBank accession number; M17262 for factor II; J02933 for factor VII; K02402 for factor IX; AH002727 for factor X; M11228 for protein C; NT_022625 and M57853 for protein S; U65896 for GGC. — indicates synonymous mutation.

*

Position is relative to the ATG start site except for the factor VII gene. In the factor VII gene, residue +1 is the first amino acid of the mature protein33 

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