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Table 2 Reported variants in the coding sequence of CACNA1S

From: The role of CACNA1Sin predisposition to malignant hyperthermia

Reported mis-sense changes in CACNA1S

Exon

Nucleotide changea

Protein change

Incidenceb

Population

Disease statusc

References

1

c.64A>T

p.Glu22Val

Unknown

Unknown

unknown

ss95806

2

c.205C>G

p.Ala69Gly

11

UK

polymorphism

This study (ss43973054)

4

c.520C>T

p.Arg174Trp

1

UK

MH

This study

6

c.773G>A

p.Gly258Asp

4

UK

polymorphism

This study

10

c.1373T>A

p.Leu458His

14

UK & France

polymorphism

This study, 5

11

c.1582C>G

p.Arg528Gly

1

China

HOKPP

[27]

11

c.1583G>A

p.Arg528His

77

Europe, USA, Japan, Korea & china

HOKPP

[28–43]

12

c.1669G>A

p.Arg557His

1

Unknown

unknown

ss6793785

12

c.1817G>A

p.Ser606Asn

1

UK

polymorphism

This study

21

c.2691G>T

p.Arg897Ser

1

France

HOKPP

[44]

26

c.3257G>A

p.Arg1086His

3

USA & France

MH

[5, 11, 12]

30

c.3684C>G

p.Arg1239Gly

10

USA & Korea

HOKPP

[28, 33, 42, 45, 46]

30

c.3685G>A

p.Arg1239His

50

USA, Europe & Japan

HOKPP

[29, 33, 34, 39, 42, 45, 47]

37

c.4475C>A

p.Ala1492Asp

1

Italy

polymorphism

[48]

38

c.4621C>T

p.Arg1541Cys

4

UK

polymorphism

This study (rs3850625)

40

c.4978G>A

p.Arg1660His

5

UK

polymorphism

This study (rs13374149)

44

c.5404T>C

p.Leu1802Ser

Unknown

UK

polymorphism

rs12139527

44

c.5525G>C

p.Glu1842Asp

Unknown

UK

polymorphism

rs1042379

  1. aNumbering based on cDNA ref: ENST00000263942.
  2. bTotal number of independent observations.
  3. cDisease status reported with variant; malignant hyperthermia (MH), and hypokalemic periodic paralysis (HOKPP).