In Silico Data
SCN5A Variant V263I Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-0.98 | 0.999 | 6.69 | 0.767 | 1 | 24 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
30059973 | 2018 | 1 | 1 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 3 | 2 | 1 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 1 | 0 | - | - |
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) |
---|---|---|---|---|---|---|
30059973 | 2018 |
V263I has 67 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
254 | 15 | |
255 | 13 | |
256 | 11 | |
257 | 10 | |
258 | 9 | V258A, |
259 | 6 | |
260 | 6 | |
261 | 7 | |
262 | 4 | S262G, |
263 | 0 | V263I, |
264 | 4 | |
265 | 6 | A265V, |
266 | 6 | L266H, |
267 | 6 | |
268 | 9 | G268S, |
269 | 11 | |
270 | 11 | Q270K, |
271 | 12 | L271V, |
272 | 14 | |
355 | 12 | F355C, F355I, |
357 | 15 | |
358 | 10 | |
359 | 14 | p.A359PfsX12, A359T, |
361 | 11 | |
362 | 10 | |
363 | 15 | |
364 | 13 | |
365 | 9 | |
366 | 13 | |
368 | 13 | |
369 | 12 | M369K, |
391 | 15 | |
392 | 11 | |
393 | 14 | |
395 | 10 | |
396 | 10 | V396A, V396L, |
397 | 14 | I397F, I397T, I397V, |
399 | 11 | |
400 | 11 | G400R, G400E, G400A, |
401 | 14 | S401P, |
403 | 14 | |
404 | 13 | L404V, L404Q, |
1535 | 14 | |
1538 | 12 | |
1539 | 11 | C1539Y, C1539F, |
1540 | 14 | |
1541 | 12 | |
1542 | 7 | |
1543 | 11 | V1543L, V1543A, |
1544 | 13 | T1544P, |
1545 | 10 | |
1546 | 9 | M1546T, |
1547 | 15 | V1547L, |
1548 | 15 | E1548K, G1548K, |
1591 | 14 | W1591X, |
1623 | 12 | R1623L, R1623X, c.4867delC, R1623Q, |
1624 | 10 | V1624I, |
1625 | 13 | |
1626 | 12 | R1626L, R1626H, R1626C, R1626P, |
1627 | 7 | |
1628 | 8 | |
1629 | 12 | R1629X, R1629Q, R1629G, |
1630 | 7 | I1630V, I1630R, |
1631 | 9 | G1631D, |
1632 | 13 | R1632H, R1632L, R1632C, |
1633 | 11 | |
1634 | 12 | L1634P, |