In Silico Data
SCN5A Variant M394T Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.838 | 50 | 26 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 11 | 1 | 3 | - | - |
M394T has 60 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
264 | 11 | |
267 | 13 | |
268 | 15 | G268S, |
271 | 14 | L271V, |
272 | 15 | |
365 | 13 | |
368 | 11 | |
369 | 13 | M369K, |
371 | 12 | Q371E, |
374 | 11 | W374G, |
377 | 14 | |
378 | 10 | |
381 | 13 | c.1141-3C>A, c.1140+1G>A, |
382 | 12 | |
386 | 13 | G386E, G386R, |
387 | 12 | |
388 | 11 | I388S, |
389 | 11 | Y389X, Y389H, |
390 | 6 | |
391 | 5 | |
392 | 7 | |
393 | 6 | |
394 | 0 | |
395 | 5 | |
396 | 7 | V396L, V396A, |
397 | 7 | I397F, I397V, I397T, |
398 | 6 | |
399 | 8 | |
400 | 10 | G400R, G400E, G400A, |
401 | 11 | S401P, |
402 | 10 | F402L, |
403 | 12 | |
1654 | 15 | |
1657 | 13 | |
1658 | 12 | |
1659 | 15 | |
1660 | 13 | I1660S, I1660V, |
1661 | 10 | G1661E, G1661R, |
1662 | 12 | |
1663 | 14 | |
1664 | 10 | |
1665 | 10 | |
1666 | 15 | |
1667 | 15 | V1667I, |
1668 | 11 | M1668T, |
1698 | 14 | A1698T, |
1700 | 14 | |
1701 | 10 | M1701I, |
1702 | 11 | |
1703 | 14 | |
1704 | 12 | L1704H, |
1705 | 7 | |
1706 | 12 | Q1706H, |
1707 | 14 | |
1708 | 11 | T1708I, |
1709 | 11 | T1709R, T1709M, p.T1709del, |
1711 | 15 | c.5131delG, |
1759 | 15 | S1759C, |
1764 | 14 | c.5290delG, V1764F, |
1767 | 13 | Y1767C, |