In Silico Data
SCN5A Variant G1420R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-7.59 | 1 | -4.79 | 0.968 | 92 | 2 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
26729854 | 2016 | 1 | 0 | 1 | 0 | ||
28341781 | 2017 | 1 | 0 | 1 | 0 | ||
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
29574140 | 2018 | 1 | 0 | 1 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 3 | 0 | 0 | 3 | - | |
VARIANT FEATURES ALONE: | - | 15 | 9 | 0 | 6 | - | - |
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|---|---|---|---|---|---|
29574140 | 2018 | |||||
26729854 | 2016 | |||||
28341781 | 2017 | |||||
20129283 | 2010 | |||||
32533946 | 2020 | HEK | 3 |
G1420R has 65 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
901 | 12 | E901K, S901L, |
896 | 12 | C896S, |
1417 | 9 | |
1430 | 15 | D1430N, |
1426 | 11 | |
1453 | 14 | |
1715 | 9 | |
1687 | 13 | |
372 | 13 | |
1756 | 15 | I1756V, |
1429 | 14 | |
1711 | 11 | c.5131delG, |
1450 | 12 | |
1707 | 14 | |
1398 | 12 | V1398M, |
1411 | 9 | |
1407 | 14 | |
1458 | 14 | S1458Y, |
1410 | 12 | |
1706 | 14 | Q1706H, |
1716 | 12 | p.L1716SfsX71, |
1714 | 6 | D1714G, |
376 | 13 | R376H, R376C, |
897 | 13 | G897E, G897R, |
1423 | 5 | D1423H, |
1721 | 15 | |
1422 | 6 | M1422R, |
1418 | 8 | |
892 | 14 | F892I, |
373 | 11 | |
1712 | 8 | G1712S, G1712C, |
898 | 9 | |
893 | 10 | R893C, R893H, |
1412 | 11 | L1412F, |
1719 | 14 | |
1408 | 13 | G1408R, |
889 | 14 | |
1709 | 15 | T1709M, T1709R, p.T1709del, |
1420 | 0 | G1420D, G1420R, G1420P, G1420V, |
1360 | 13 | F1360C, |
1401 | 13 | |
1425 | 9 | |
1399 | 12 | |
1713 | 10 | |
1454 | 13 | |
1427 | 11 | A1427E, A1427S, |
1424 | 6 | I1424V, |
1409 | 15 | Y1409X, Y1409C, |
878 | 11 | R878C, R878H, R878L, |
1400 | 8 | V1400I, |
1421 | 5 | |
1718 | 11 | S1718R, |
1717 | 11 | L1717P, |
1416 | 10 | c.4245+1G>C, c.4245+2T>A, A1416G, A1416E, c.4245+1G>A, |
1752 | 14 | |
879 | 12 | W879R, |
1686 | 12 | |
375 | 12 | |
1710 | 11 | S1710L, |
1415 | 7 | |
1428 | 12 | A1428S, A1428V, |
1419 | 5 | K1419E, |
1414 | 6 | Q1414H, |
1402 | 13 | |
1413 | 11 |