W360S Summary

SCN5A W360S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. W360S is not present in gnomAD. W360S has been functionally characterized in 0 papers. Other variants at the same resdue are W360C .W360C .W360G .W360L .W360R .W360R .W360S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

W360S 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 0.924

W360S has 58 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
261 13.7
262 14.4
265 11.1
266 13.8
268 12.3
269 10.9
272 13.7
273 12.8
274 12.9
276 12.1 L276Q
277 12.2
345 14.8
346 12.2 E346K
347 9.7
348 11.7
349 12.4 D349N
350 11
351 7.7 G351S G351V
352 5.4
353 7.5 T353I
354 6.6
355 8.7 F355I
356 7.3 D356N
357 5.8
358 8.5
359 4.3
361 6.3
362 8.4
363 6
364 7.9
365 11.1
366 12.1
367 11.3 R367C R367H
368 14.1
377 13
899 13.3
900 11.6
903 10.5
904 8.8
905 14.6
906 13.9
907 9.2
908 13.1
910 15 S910L
911 11.9
912 8.2 Q912R
913 12.4
914 15
915 12.8
916 9.6
917 13.2
919 14.9
920 13.5
1546 13.4
1547 14.6
1548 14.7 E1548K G1548K
1549 11.8
1550 12.7