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Table 2 Genetic variants within the human NOTCH1 gene identified in familial BAV patients

From: Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

Genomic position (NG_007458.1)

Position NOTCH1gene

cDNA position (NM_017617.3)

Protein position

Number of patients

rsSNP number (dbSNP)

g.26979 T > C

Exon 3

c.312 T > C

p.N104N

6

rs4489420

g.31330 C > T

Exon 5

c.851C > T

p.P284L

1

New

g.31331 G > A

Exon 5

c.852 G > A

p.P284P

4

rs2229975

g.34650 T > C

IVS 9-43

  

3

rs4880099

g.33525A > G

IVS 9 + 10

  

2

rs11145767

g.33601 C > A/T

IVS 9 + 86

  

2

rs113341997

g.33617C > T

IVS 9 + 102

  

1

rs10781498

g.33620C > T

IVS 9 + 105

  

1

rs11574887

g.34772C > T

Exon 10

c.1635 C > T

p.D545D

1

rs11574889

g.35062A > G

IVS 11-9

  

3

rs3124603

g.35367 G > A

IVS 11 + 63

  

1

New

g.35591C > T

IVS 12 + 94

  

1

rs62579232

g.36347G > A

IVS 13 + 70

  

2

rs3812609

g.37307 T > C

Exon 14

c.2265 T > C

p.N755N

4

rs2229971

g.39978G > A

IVS 16-4

  

3

rs3125001

g.40058C > T

Exon 17

c.2664 C > T

p.H888H

1

rs61751548

g.40085C > T

Exon 17

c.2691 C > T

p.A897A

1

rs11574895

g.42820 C > T

Exon 21

c.3498 C > T

p.G1166G

1

New

g.45953 C > G

Exon 26

c.4856 C > G

p.Y1619X

1

New

g.47532C > T

Exon 27

c.5094 C > T

p.D1698D

3

rs10521

g.48831 T > C

IVS 30-43

  

2

rs3124594

g.49928C > T

IVS 30-12

  

1

rs11574908

g.51487 C > T

IVS 32-41

  

1

New