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. 2021 Nov 4;12:756415. doi: 10.3389/fphar.2021.756415

TABLE 4.

PDVs and their contacts in activated VSDsa.

PDVs Contacts
Variantb Syndromec Mutation Syndromed Significance e f
IS1M138I AF IS4T229S BrS1 VUS S
T DCM1 IS4-S5V232I A, BrS1, CVP CIP S
IS1I141N BrS1 IS4T229S BrS1 VUS S
F NS IS4R225Q BrS1, LQT3, More CIP S
W BrS1, LQT3, More P/LP S
IS4A226D BrS1 VUS S
V BrS1, LQT3, More CIP
IS4V232I A, BrS1, CVP CIP
IS2R179P BrS1 IS1L128P BrS1 VUS 4
Q BrS1 IS2-S3T187S BrS1 VUS
I BrS1 NP
A BrS1, CA CIP
IS2-S3T187S BrS1 IS2R179P BrS1 VUS 4
I BrS1, NP Q BrS1 VUS
A BrS1
IS3D197G BrS1 IS2K175D BrS1 NP
H BrS1 IS2E171G BrS1 VUS
Y DCM
IIS3E795K BrS1 IIS4L807P BrS1, NP VUS S
IIS4-S5L825P BrS1 IIS4F816L A VUS S
Y LQT3 NP S
IIIS5V1340L CVP VUS
I NP, BrS1, A VUS
IIS5I848F A,BrS1, LQT31 IS4A226V BrS1, LQT3, More CIP S
D BrS1 VUS S
IS4I230T
IIIS1A1221V A, BrS1 IIIS2L1239P BrS1 NP
IIIS4R1306L CVP IIIS2D1243E BrS1 VUS S
H NP, BrS1 NG BrS1, More VUS S
C A IIIS2E1225K BrS1 VUS S
S BrS1 LQT3, BrS1, A VUS S
IIIS4R1316L BrS1 IIIS1E1208K A, NP VUS S
Q BrS1
IVS2E1574K BrS11,3 IVS1I1534S LQT3 VUS S
IVS2C1575Y A, BrS1 IVS3F1596I LQT3, BrS1, More VUS
S A
IVS3N1592Y BrS1 IVS4R1638P NP LP
IVS4-S5I1643L NP IVS3I1637T NS VUS

a-e footnotes to Table 1.