In Silico Data
SCN5A Variant L404Q Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.88 | 1 | -5.17 | 0.984 | 5 | 49 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
15840476 | 2005 | 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) |
---|---|---|---|---|---|---|
15840476 | 2005 |
L404Q has 72 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
246 | 15 | |
247 | 15 | V247L, |
249 | 15 | K249X, |
250 | 10 | |
251 | 13 | |
252 | 13 | |
253 | 8 | |
254 | 9 | |
255 | 11 | |
256 | 8 | |
257 | 6 | |
258 | 11 | V258A, |
259 | 11 | |
260 | 8 | |
261 | 9 | |
262 | 13 | S262G, |
263 | 13 | V263I, |
264 | 12 | |
362 | 14 | |
365 | 12 | |
366 | 10 | |
367 | 15 | R367C, R367L, R367H, |
368 | 12 | |
369 | 6 | M369K, |
370 | 10 | T370M, |
371 | 11 | Q371E, |
395 | 13 | |
396 | 10 | V396A, V396L, |
397 | 10 | I397T, I397F, I397V, |
398 | 11 | |
399 | 9 | |
400 | 5 | G400E, G400R, G400A, |
401 | 6 | S401P, |
402 | 8 | F402L, |
403 | 6 | |
404 | 0 | L404V, L404Q, |
405 | 5 | |
406 | 7 | N406K, N406S, |
407 | 5 | |
408 | 6 | |
409 | 10 | L409V, L409P, |
410 | 10 | A410V, |
411 | 11 | V411M, |
412 | 13 | V412D, |
413 | 15 | A413T, A413E, |
920 | 15 | |
923 | 13 | |
924 | 12 | V924I, |
927 | 13 | N927K, N927S, |
928 | 10 | L928P, |
929 | 13 | |
932 | 12 | |
1634 | 15 | L1634P, |
1642 | 14 | G1642E, |
1643 | 12 | I1643L, |
1646 | 10 | |
1647 | 11 | |
1649 | 12 | A1649V, |
1650 | 9 | L1650F, |
1651 | 14 | |
1653 | 13 | |
1654 | 13 | |
1657 | 13 | |
1764 | 14 | V1764F, c.5290delG, |
1767 | 11 | Y1767C, |
1768 | 11 | I1768V, |
1769 | 14 | |
1770 | 14 | I1770V, |
1771 | 10 | I1771T, |
1772 | 12 | L1772V, |
1774 | 15 | N1774D, c.5321_5324dupACTT, |
1775 | 12 | p.F1775LfsX15, F1775V, |