S354I Summary

SCN5A S354I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S354I is not present in gnomAD. S354I has been functionally characterized in 0 papers. Other variants at the same resdue are S354C .S354G .S354I .S354N .S354R .S354R .S354R .S354T . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

S354I 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 0.964

S354I has 67 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
264 14.9
265 10.9
266 13.1
267 13.3
268 9
269 8.8
270 12.3 Q270K
271 11.8
272 8.3
273 8.9
274 7.1
275 8.9
276 5.5 L276Q
277 7
278 11.3
279 12.5
322 15
323 14.5
325 11.8
343 11.7
344 12
345 11.2
346 9.9 E346K
347 5.9
348 7.5
349 10 D349N
350 11.2
351 6.9 G351S G351V
352 7.9
353 4.2 T353I
355 4.7 F355I
356 5.2 D356N
357 7.4
358 10.8
359 9.1
360 6.6
361 6.7
362 11.6
363 9.1
364 7.7
365 11
366 14.3
367 11 R367C R367H
368 12.8
373 15
376 12.5 R376H
377 9.1
378 14.7
379 14.9
380 9.9
381 10.1
382 14.4
384 11.9
385 13.4 A385T
389 14.5
392 13.5
393 13.9
900 12.9
903 14.2
904 10.8
907 13.9
912 13.9 Q912R
1546 14.8
1548 13.8 E1548K G1548K
1549 11.2
1550 9.7
1551 13.6 D1551N