In Silico Data
SCN5A Variant T1544P Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.48 | 0.996 | -3.81 | 0.959 | 4 | 52 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
23631430 | 2013 | 1 | 1 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 1 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 13 | 1 | 1 | - | - |
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) |
---|---|---|---|---|---|---|
23631430 | 2013 |
T1544P has 53 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
262 | 13 | S262G, |
263 | 13 | V263I, |
265 | 14 | A265V, |
266 | 10 | L266H, |
267 | 14 | |
268 | 15 | G268S, |
269 | 11 | |
270 | 10 | Q270K, |
273 | 14 | |
357 | 14 | |
358 | 11 | |
1534 | 15 | |
1535 | 15 | |
1536 | 12 | |
1537 | 10 | |
1538 | 10 | |
1539 | 10 | C1539Y, C1539F, |
1540 | 7 | |
1541 | 5 | |
1542 | 7 | |
1543 | 4 | V1543A, V1543L, |
1544 | 0 | T1544P, |
1545 | 5 | |
1546 | 7 | M1546T, |
1547 | 6 | V1547L, |
1548 | 7 | E1548K, G1548K, |
1549 | 12 | |
1552 | 14 | Q1552L, Q1552R, |
1553 | 14 | S1553R, |
1555 | 15 | E1555K, |
1556 | 10 | |
1557 | 12 | I1557V, |
1558 | 13 | |
1559 | 9 | I1559V, |
1560 | 6 | L1560F, |
1561 | 10 | |
1562 | 12 | |
1563 | 6 | |
1564 | 7 | |
1565 | 12 | L1565M, |
1566 | 11 | |
1567 | 8 | F1567L, |
1568 | 13 | |
1570 | 14 | p.1570_F1571insI, I1570V, p.I1570dup, |
1571 | 13 | F1571C, |
1622 | 14 | |
1623 | 12 | R1623X, c.4867delC, R1623L, R1623Q, |
1624 | 15 | V1624I, |
1626 | 10 | R1626P, R1626C, R1626L, R1626H, |
1627 | 11 | |
1628 | 15 | |
1629 | 14 | R1629X, R1629Q, R1629G, |
1630 | 13 | I1630R, I1630V, |