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 | |
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 | |
30 | c.3684C>G | p.Arg1239Gly | 10 | USA & Korea | HOKPP | |
30 | c.3685G>A | p.Arg1239His | 50 | USA, Europe & Japan | HOKPP | |
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 |