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Table 1 New NOTCH3 mutations in CADASIL from 2014 to 2024

From: First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts—case report and brief review

Continent

Country

Exon

Nucleotide change

Amino acid change

Asia

China

2

c.128G > C

p.Cys43Ser

3

c.218G > C c.331G > T c.316T > G

p.Gly73Ala p.Gly111Cys p.Cys106Gly

4

c.635G > C c.446G > T

p.Cys212Ser p.Gly149Val

6

c.931T > G c.1013G > C

p.Cys311Gly p.Cys338Ser

13

c.1594 C > T

p.Pro652Ser

19

c.3043T > A

p.Cys1015Ser

20

c.3299G > A

p.Arg1100His

24

c.3892T > G

p.Cys1298Gly

29

c.5282G > A

p.Arg1761His

Japan

24

c.3879 C > G

p.Cys1293Trp

Korean

4

c.499 C > T

p.Pro167Ser

Saudi Arabia

19

c.3009G > T

p.Trp1003Cys

Europe

Russia

1

c.208G > T

p.Gly70Cys

7

c.1136G > A

p.Cys379Tyr

10

c.1547G > A

p.Cys516Tyr

Spain

3

c.244T > C

p.Cys82Arg

Italy

24

c.3944G > A

p.Cys1315Tyr

North America

Canada

8

c.1337G > A

p.Cys446Tyr