Table 2

Reported variants in the coding sequence of CACNA1S

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


aNumbering based on cDNA ref: ENST00000263942.

bTotal number of independent observations.

cDisease status reported with variant; malignant hyperthermia (MH), and hypokalemic periodic paralysis (HOKPP).

Carpenter et al. BMC Medical Genetics 2009 10:104   doi:10.1186/1471-2350-10-104

Open Data