In Silico Data
SCN5A Variant V396D Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.99 | 71 | 19 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 11 | 0 | 4 | - | - |
V396D has 66 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
256 | 14 | |
257 | 12 | |
258 | 14 | V258A, |
259 | 13 | |
260 | 9 | |
261 | 9 | |
262 | 12 | S262G, |
263 | 10 | V263I, |
264 | 6 | |
265 | 10 | A265V, |
266 | 13 | L266H, |
267 | 9 | |
268 | 10 | G268S, |
269 | 14 | |
271 | 13 | L271V, |
272 | 12 | |
355 | 12 | F355C, F355I, |
358 | 15 | |
361 | 12 | |
362 | 12 | |
363 | 13 | |
364 | 10 | |
365 | 7 | |
366 | 10 | |
367 | 11 | R367C, R367H, R367L, |
368 | 5 | |
369 | 7 | M369K, |
370 | 10 | T370M, |
371 | 9 | Q371E, |
372 | 13 | |
373 | 14 | |
374 | 10 | W374G, |
377 | 11 | |
378 | 11 | |
381 | 13 | c.1141-3C>A, c.1140+1G>A, |
382 | 14 | |
388 | 15 | I388S, |
389 | 12 | Y389X, Y389H, |
390 | 11 | |
391 | 10 | |
392 | 6 | |
393 | 6 | |
394 | 7 | |
395 | 5 | |
396 | 0 | V396L, V396A, |
397 | 4 | I397F, I397V, I397T, |
398 | 8 | |
399 | 7 | |
400 | 6 | G400R, G400E, G400A, |
401 | 7 | S401P, |
402 | 9 | F402L, |
403 | 10 | |
404 | 10 | L404V, L404Q, |
405 | 12 | |
406 | 14 | N406S, N406K, |
1624 | 14 | V1624I, |
1627 | 14 | |
1628 | 15 | |
1657 | 15 | |
1658 | 15 | |
1661 | 15 | G1661E, G1661R, |
1705 | 12 | |
1706 | 14 | Q1706H, |
1708 | 14 | T1708I, |
1709 | 12 | T1709R, T1709M, p.T1709del, |
1767 | 14 | Y1767C, |