Table 1 List of known SQTS variants and associated mutations
From: Learning from studying very rare cardiac conditions: the example of short QT syndrome
SQT subtype | Gene & gene product | Channel (subunit) | Mutation (amino-acid change) | Gain/Loss of function |
|---|---|---|---|---|
SQT1 | KCNH2 (hERG) | IKr (α [pore-forming] sub-unit) | N588K R1135H E50D I560T T618I S631A | Gain-of-function Gain-of-function Gain-of-function Gain-of-function Gain-of-function Gain-of-function |
SQT2 | KCNQ1 (KCNQ1/KvLQT1) | IKs (α sub-unit) | V307 L V141 M R259H F279I | Gain-of-function Gain-of-function Gain-of-function Gain-of-function |
SQT3 | KCNJ2 (Kir2.1) | I K1 | D172N M301K E299V K346 T | Gain-of-function Gain-of-function Gain-of-function Gain-of-function |
SQT4 | CACNA1C (CaV1.2) | L-type ICa (α subunit) | A39V G490R R1973P R1977Q | Loss-of-function Loss-of-function Loss-of-function Loss-of-function |
SQT5 | CACNB2b (β2b subunit) | L-type ICa (β2b subunit) | S481 L | Loss-of-function |
SQT6 | CACNA2D1 | L-type ICa (α2δ1 subunit) | S755 T | Loss-of-function |
SQT7 | SCN5A | INa (canonical α subunit) | R689H | Putative loss-of-function |
SQT8 | SLC4A3 | Anion exchanger AE3 | R370H | Loss-of-function |
SQT9 | SCN10A | INa (noncanonical α subunit) | G805 V | Presumed loss-of-function (functional data required) |
Other | ||||
Primary carnitine deficiency | SLC22A5 | OCTN2 | W62X ♂ + R471 ♀ R471 + null R289* | Loss-of-function |