In Silico Data
SCN5A Variant H278D Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-2.71 | 0.454 | -2 | 0.83 | 90 | 3 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
20129283 | 2010 | 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) |
---|---|---|---|---|---|---|
20129283 | 2010 |
H278D has 57 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
268 | 14 | G268S, |
269 | 15 | |
271 | 13 | L271V, |
272 | 10 | |
273 | 11 | |
274 | 6 | G274C, |
275 | 5 | N275K, |
276 | 7 | L276Q, L276P, |
277 | 7 | |
278 | 0 | H278R, H278D, |
279 | 6 | |
280 | 8 | C280Y, |
281 | 10 | V281M, |
320 | 13 | T320N, |
321 | 13 | S321Y, |
322 | 14 | |
323 | 10 | |
324 | 11 | |
325 | 6 | L325R, |
326 | 7 | |
327 | 6 | |
328 | 8 | |
329 | 11 | |
330 | 14 | S330F, |
332 | 11 | A332T, |
333 | 11 | c.998+5G>A, c.998+1G>A, |
334 | 11 | c.999-424_1338+81del, |
335 | 11 | C335R, C335S, |
336 | 14 | P336L, |
339 | 14 | |
340 | 11 | R340W, R340Q, |
341 | 5 | C341Y, |
342 | 6 | |
343 | 6 | |
344 | 7 | A344S, |
345 | 10 | |
346 | 12 | E346G, E346X, E346D, E346K, |
347 | 10 | |
348 | 11 | P348A, |
349 | 15 | D349N, |
351 | 14 | G351V, G351S, G351D, G351C, |
353 | 13 | T353I, |
354 | 11 | |
355 | 13 | F355C, F355I, |
356 | 13 | D356N, |
377 | 14 | |
379 | 15 | |
380 | 10 | |
381 | 10 | c.1140+1G>A, c.1141-3C>A, |
382 | 12 | |
383 | 10 | |
384 | 5 | S384T, |
385 | 8 | A385T, |
386 | 11 | G386E, G386R, |
389 | 13 | Y389H, Y389X, |
1550 | 11 | |
1551 | 13 | D1551Y, D1551N, |