In Silico Data
SCN5A Variant T1620K Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.35 | 0.978 | -1.94 | 0.938 | 28 | 53 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
18065446 | 2008 | 4 | 3 | 0 | 1 | CCD | |
LITERATURE, COHORT, AND GNOMAD: | - | 3 | 0 | 3 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 11 | 2 | 2 | - | - |
Functional Data
T1620K has 47 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
264 | 14 | |
265 | 15 | A265V, |
266 | 12 | L266H, |
267 | 10 | |
268 | 11 | G268S, |
269 | 12 | |
270 | 8 | Q270K, |
271 | 6 | L271V, |
272 | 10 | |
273 | 12 | |
274 | 14 | G274C, |
275 | 12 | N275K, |
329 | 14 | |
355 | 14 | F355C, F355I, |
384 | 15 | S384T, |
385 | 12 | A385T, |
386 | 13 | G386E, G386R, |
388 | 11 | I388S, |
389 | 10 | Y389H, Y389X, |
391 | 12 | |
392 | 12 | |
395 | 15 | |
1545 | 12 | |
1548 | 14 | E1548K, G1548K, |
1597 | 14 | V1597M, |
1598 | 13 | V1598A, |
1601 | 11 | L1601H, |
1602 | 14 | |
1604 | 14 | V1604M, c.4810+3_4810+6dupGGGT, |
1605 | 13 | G1605D, G1605C, c.4813+3_4813+6dupGGGT, c.4813+2_4813+5dupTGGG, c.4813+5insTGGG, |
1610 | 15 | D1610G, |
1613 | 12 | Q1613L, Q1613H, |
1614 | 11 | |
1615 | 15 | Y1615X, |
1616 | 13 | |
1617 | 8 | p.F1617del, |
1618 | 5 | |
1619 | 4 | c.4856delC, P1619L, P1619Q, |
1620 | 0 | T1620M, T1620K, |
1621 | 4 | |
1622 | 7 | |
1623 | 5 | R1623L, R1623X, R1623Q, c.4867delC, |
1624 | 7 | V1624I, |
1625 | 9 | |
1626 | 11 | R1626P, R1626H, R1626L, R1626C, |
1627 | 11 | |
1628 | 13 |