In Silico Data
SCN5A Variant Q1706H Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.39 | 0.999 | -2.35 | 0.9 | 77 | 3 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
21321465 | 2011 | 1 | 0 | 1 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 0 | 1 | - | |
VARIANT FEATURES ALONE: | - | 15 | 10 | 0 | 5 | - | - |
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|---|---|---|---|---|---|
21321465 | 2011 |
Q1706H has 76 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
367 | 13 | R367H, R367L, R367C, |
368 | 12 | |
370 | 14 | T370M, |
371 | 10 | Q371E, |
372 | 12 | |
373 | 10 | |
374 | 6 | W374G, |
375 | 6 | |
376 | 11 | R376H, R376C, |
377 | 10 | |
378 | 6 | |
379 | 7 | |
380 | 12 | |
381 | 12 | c.1140+1G>A, c.1141-3C>A, |
382 | 11 | |
383 | 14 | |
386 | 14 | G386E, G386R, |
387 | 14 | |
390 | 11 | |
391 | 14 | |
392 | 14 | |
393 | 10 | |
394 | 12 | |
396 | 14 | V396A, V396L, |
397 | 11 | I397V, I397F, I397T, |
398 | 14 | |
401 | 15 | S401P, |
402 | 14 | F402L, |
1414 | 15 | Q1414H, |
1417 | 14 | |
1419 | 11 | K1419E, |
1420 | 14 | G1420P, G1420V, G1420R, G1420D, |
1664 | 13 | |
1667 | 14 | V1667I, |
1668 | 11 | M1668T, |
1671 | 14 | |
1672 | 13 | S1672Y, |
1679 | 15 | |
1686 | 13 | |
1687 | 10 | |
1688 | 11 | |
1689 | 12 | D1689N, |
1691 | 12 | |
1692 | 8 | |
1693 | 12 | |
1694 | 12 | |
1698 | 12 | A1698T, |
1699 | 11 | |
1700 | 10 | |
1701 | 10 | M1701I, |
1702 | 7 | |
1703 | 5 | |
1704 | 7 | L1704H, |
1705 | 6 | |
1706 | 0 | Q1706H, |
1707 | 5 | |
1708 | 7 | T1708I, |
1709 | 7 | T1709R, T1709M, p.T1709del, |
1710 | 8 | S1710L, |
1711 | 5 | c.5131delG, |
1712 | 6 | G1712C, G1712S, |
1713 | 8 | |
1714 | 12 | D1714G, |
1715 | 10 | |
1716 | 8 | p.L1716SfsX71, |
1717 | 12 | L1717P, |
1718 | 15 | S1718R, |
1719 | 14 | |
1720 | 15 | c.5157delC, |
1751 | 14 | |
1752 | 11 | |
1755 | 11 | |
1756 | 13 | I1756V, |
1759 | 12 | S1759C, |
1760 | 13 | |
1764 | 14 | V1764F, c.5290delG, |