In Silico Data
SCN5A Variant C335S Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-9.81 | 0.951 | -0.87 | 0.926 | 79 | 6 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
25650408 | 2015 | 1 | 0 | 1 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 0 | 1 | - | |
VARIANT FEATURES ALONE: | - | 15 | 10 | 0 | 5 | - | - |
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) |
---|---|---|---|---|---|---|
25650408 | 2015 |
C335S has 35 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
278 | 11 | H278D, H278R, |
279 | 12 | |
280 | 7 | C280Y, |
281 | 10 | V281M, |
282 | 11 | R282H, R282C, |
283 | 12 | |
284 | 15 | |
323 | 12 | |
324 | 11 | |
325 | 10 | L325R, |
326 | 5 | |
327 | 7 | |
328 | 8 | |
329 | 10 | |
330 | 12 | S330F, |
331 | 12 | |
332 | 9 | A332T, |
333 | 7 | c.998+1G>A, c.998+5G>A, |
334 | 4 | c.999-424_1338+81del, |
335 | 0 | C335S, C335R, |
336 | 4 | P336L, |
337 | 8 | |
338 | 8 | |
339 | 7 | |
340 | 9 | R340W, R340Q, |
341 | 8 | C341Y, |
342 | 11 | |
382 | 15 | |
383 | 10 | |
384 | 11 | S384T, |
385 | 13 | A385T, |
386 | 14 | G386E, G386R, |
1689 | 13 | D1689N, |
1690 | 12 | c.5068_5070delGA, D1690N, |
1691 | 12 |