TABLE 5.
PDV | Contacts | |||
---|---|---|---|---|
Variant | Syndrome | Variant | Syndrome | Signif. |
IS1I141N | BrS1 | IS4V223A | A | LB |
F | NP | L | BrS1 | NP |
IS2R179P | BrS1 | IS2-S3H184Q | BrS1, CVP | CIP |
Q | BrS1 | IS2-S3A185T | BrS1, LQT3, A | CIP |
V | BrS1, A | VUS | ||
IS4R219C | A, BrS1 | IS2E161Q | BrS1 | NP |
H | BrS1, DCM | K | BrS1 | CIP |
P | LQT3, BrS1, More | |||
IIS3E795K | BrS1 | IIS4R808P | LQT3 | NP |
C | A | VUS | ||
H | LQT3, A | VUS | ||
IIS4-S5L825P | BrS1 | IIS4A819P | BrS1 | VUS |
IIS5I848F | A, BrS1, LQT3 | IS4V223A | A | LB |
L | BrS1 | NP | ||
IS4L227P | BrS1 | CIP | ||
IIIS4R1306L | CVP | IIIS3I1278N | LQT3 | NP |
H | NP, BrS1 | |||
C | A | |||
S | BrS1 | |||
IVS2C1575Y | A, BrS1 | IVS3D1595H | BrS1, LQT3, More | LP |
S | A | N | BrS1, More | P |
IVS4-S5I1643L | NP | IS5D252V | BrS1 | VUS |
IVS3I1637T | NS | VUS |
Contacts in the cryo-EM structure are shown in Table 4.