S384Y Summary

SCN5A S384Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S384Y is not present in gnomAD. S384Y has been functionally characterized in 0 papers. Other variants at the same resdue are S384A .S384C .S384F .S384P .S384T .S384Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S384Y Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.953

S384Y has 63 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
268 13.2
271 11.5
272 8.6
273 12.8
274 8.9
275 6
276 6.4 L276Q
277 10.3
278 5.4
279 9.6
280 10.1
281 13.7 V281M
323 11.5
324 9.9
325 5.3
326 6.5
327 5
328 7.4
329 7.5
330 10.8
331 11.2
332 6.4 A332T
333 7.9
334 9
335 11 C335R
336 13.8 P336L
340 14.5 R340Q R340W
341 8.5 C341Y
342 11.2
343 11
344 12.3
345 14.1
347 12.3
348 11.1
349 14.6 D349N
353 12.6 T353I
354 11.9
355 11.9 F355I
356 14.6 D356N
376 13.2 R376H
377 11.3
378 11
379 10.3
380 7.6
381 5.5
382 6.6
383 6
385 3.8 A385T
386 6.2 G386E G386R G386R
387 10.9
388 10.9
389 8.9
390 13.6
392 13.4
393 12.8
1550 14.9
1620 15 T1620K T1620M
1689 12.5
1690 14.9 D1690N
1691 10.5
1692 12.2
1699 15
1702 13.7