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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 [2843]
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).