In Silico Data
SCN5A Variant Y389H Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.91 | 1 | 2.28 | 0.928 | 12 | 2 |
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: | - | 1 | 1 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 0 | 1 | - | - |
Y389H has 62 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
264 | 13 | |
265 | 14 | A265V, |
266 | 15 | L266H, |
267 | 11 | |
268 | 10 | G268S, |
269 | 13 | |
270 | 13 | Q270K, |
271 | 7 | L271V, |
272 | 7 | |
273 | 13 | |
274 | 13 | G274C, |
275 | 10 | N275K, |
276 | 11 | L276Q, L276P, |
278 | 13 | H278D, H278R, |
325 | 14 | L325R, |
326 | 15 | |
327 | 12 | |
328 | 12 | |
329 | 10 | |
330 | 11 | S330F, |
331 | 12 | |
332 | 10 | A332T, |
333 | 13 | c.998+5G>A, c.998+1G>A, |
354 | 15 | |
355 | 11 | F355I, F355C, |
365 | 14 | |
368 | 14 | |
374 | 14 | W374G, |
377 | 12 | |
378 | 9 | |
379 | 13 | |
380 | 12 | |
381 | 7 | c.1140+1G>A, c.1141-3C>A, |
382 | 7 | |
383 | 12 | |
384 | 9 | S384T, |
385 | 6 | A385T, |
386 | 5 | G386R, G386E, |
387 | 8 | |
388 | 4 | I388S, |
389 | 0 | Y389X, Y389H, |
390 | 7 | |
391 | 7 | |
392 | 7 | |
393 | 8 | |
394 | 11 | |
395 | 11 | |
396 | 12 | V396L, V396A, |
397 | 14 | I397V, I397T, I397F, |
1618 | 14 | |
1619 | 13 | P1619L, c.4856delC, P1619Q, |
1620 | 10 | T1620K, T1620M, |
1621 | 11 | |
1623 | 13 | R1623Q, R1623X, R1623L, c.4867delC, |
1624 | 12 | V1624I, |
1691 | 13 | |
1692 | 14 | |
1698 | 13 | A1698T, |
1699 | 14 | |
1701 | 14 | M1701I, |
1702 | 11 | |
1705 | 13 |