In Silico Data
SCN5A Variant G351S Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.69 | 1 | -0.61 | 0.922 | 70 | 1 |
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: | - | 3 | 3 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 11 | 0 | 4 | - | - |
G351S has 57 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
272 | 15 | |
273 | 15 | |
274 | 12 | G274C, |
275 | 14 | N275K, |
276 | 10 | L276Q, L276P, |
277 | 9 | |
278 | 14 | H278D, H278R, |
279 | 12 | |
321 | 13 | S321Y, |
322 | 11 | |
323 | 13 | |
324 | 14 | |
325 | 13 | L325R, |
343 | 14 | |
344 | 12 | A344S, |
345 | 9 | |
346 | 6 | E346G, E346X, E346K, E346D, |
347 | 4 | |
348 | 6 | P348A, |
349 | 7 | D349N, |
350 | 5 | H350Q, |
351 | 0 | G351D, G351V, G351C, G351S, |
352 | 4 | Y352C, |
353 | 5 | T353I, |
354 | 7 | |
355 | 11 | F355C, F355I, |
356 | 10 | D356N, |
357 | 11 | |
359 | 12 | p.A359PfsX12, A359T, |
360 | 8 | |
361 | 12 | |
363 | 11 | |
364 | 12 | |
367 | 13 | R367H, R367L, R367C, |
376 | 12 | R376C, R376H, |
377 | 12 | |
380 | 12 | |
381 | 15 | c.1140+1G>A, c.1141-3C>A, |
871 | 13 | |
872 | 13 | D872N, |
900 | 12 | |
901 | 13 | S901L, E901K, |
902 | 15 | |
903 | 12 | p.M903CfsX29, |
904 | 8 | W904X, |
905 | 12 | |
906 | 14 | |
907 | 10 | |
908 | 10 | |
909 | 14 | |
910 | 15 | S910L, |
911 | 13 | G911E, |
912 | 10 | Q912R, |
915 | 15 | C915R, |
916 | 14 | |
1549 | 15 | |
1550 | 13 |