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

TABLE 6.

PDVs whose missense contact variants in the cryo-EM structure or models are not listed in ClinVar.

# PDV Exposure Comment
Varianta Syndromeb,c
1 IS6V396L BrS11,3,4 Lipids Tight contacts withIS5F264 IP1L365 and IP1L368
2 IIS1L732P BrS1
3 IIS1-S2L736P BrS1 Extracellular Loop Flexibility
4 IIS1-S2H738P BrS1 Extracellular Loop Flexibility
5 IIS3M794T NP Lipids
6 IIS4-S5G833R LQT-3,NP,A, BrS17 Lipids
7 IIS5V924F NP Lipids
8 IIIS1R1195C BrS1 Cytoplasm R1195 may reach G1262
9 IIIS1R1195H Cytoplasm
10 IIIS2-S3G1262S BrS1, LQT-3, PFHB1,3,11,12 Cytoplasm Loop flexibility
11 IIIS6I1448L A, BrS1, CVP1,3,4 Lipids

a-e See footnotes to Table 1.