In Silico Data
SCN5A Variant p.L1339del Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | None | 6 | 25 |
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: | - | 2 | 1 | 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) |
---|---|---|---|---|---|---|
30059973 | 2018 |
p.L1339del has 44 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
728 | 14 | V728I, |
731 | 14 | T731I, |
815 | 13 | |
816 | 13 | F816L, F816Y, |
818 | 11 | |
819 | 11 | |
821 | 12 | |
822 | 7 | W822C, W822X, |
823 | 11 | P823T, |
824 | 7 | |
825 | 8 | |
826 | 12 | N826D, |
827 | 12 | |
828 | 10 | L828V, |
829 | 13 | |
1330 | 15 | A1330P, A1330T, A1330D, |
1331 | 13 | I1331V, |
1332 | 12 | P1332L, P1332Q, |
1333 | 11 | |
1334 | 10 | I1334V, |
1335 | 8 | M1335R, |
1336 | 6 | |
1337 | 7 | |
1338 | 6 | L1338V, |
1339 | 0 | L1339F, p.L1339del, |
1340 | 5 | V1340I, |
1341 | 7 | |
1342 | 6 | |
1343 | 6 | |
1344 | 9 | F1344S, F1344L, |
1345 | 10 | W1345C, |
1346 | 10 | L1346P, L1346I, |
1347 | 12 | |
1348 | 15 | F1348L, |
1409 | 13 | Y1409C, Y1409X, |
1457 | 14 | |
1460 | 14 | F1460L, |
1461 | 11 | T1461S, |
1462 | 14 | |
1464 | 12 | c.4389_4396delCCTCTTTA, L1464P, |
1465 | 12 | p.F1465_L1480dup, |
1468 | 14 | V1468A, V1468F, |
1757 | 14 | |
1761 | 15 | L1761F, c.5280delG, L1761H, |