In Silico Data
SCN5A Variant A344T Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.605 | 13 | 7 |
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 | 14 | 0 | 1 | - | - |
A344T has 44 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
273 | 13 | |
274 | 9 | G274C, |
275 | 10 | N275K, |
276 | 10 | L276Q, L276P, |
277 | 5 | |
278 | 7 | H278D, H278R, |
279 | 5 | |
280 | 10 | C280Y, |
281 | 8 | V281M, |
282 | 14 | R282C, R282H, |
283 | 14 | |
317 | 8 | K317N, K317M, K317E, |
318 | 13 | |
319 | 11 | G319C, G319S, G319R, |
320 | 8 | T320N, |
321 | 9 | S321Y, |
322 | 11 | |
323 | 10 | |
324 | 13 | |
325 | 10 | L325R, |
326 | 12 | |
327 | 12 | |
328 | 15 | |
339 | 14 | |
340 | 12 | R340W, R340Q, |
341 | 9 | C341Y, |
342 | 6 | |
343 | 5 | |
344 | 0 | A344S, |
345 | 3 | |
346 | 7 | E346G, E346K, E346D, E346X, |
347 | 9 | |
348 | 10 | P348A, |
349 | 14 | D349N, |
351 | 12 | G351S, G351V, G351D, G351C, |
352 | 15 | Y352C, |
353 | 13 | T353I, |
354 | 12 | |
356 | 12 | D356N, |
380 | 14 | |
384 | 12 | S384T, |
1549 | 15 | |
1550 | 10 | |
1551 | 11 | D1551Y, D1551N, |