F366S Summary

SCN5A F366S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F366S is not present in gnomAD. F366S has been functionally characterized in 0 papers. Other variants at the same resdue are F366C .F366I .F366L .F366L .F366L .F366S .F366V .F366Y . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

F366S 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 0.983

F366S has 75 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
250 14.7
253 13.7
254 11
255 14.3
256 13.4
257 9
258 10
259 13.8
260 10.9
261 6.9
262 11.5
263 13.2 V263I
264 11.4
265 10.6
266 15
267 14.9
268 14
352 14.9
353 13.4 T353I
354 14.3
355 12.6 F355I
358 12.5
359 11.4
360 12.1
361 9.7
362 6.5
363 6.3
364 6.8
365 5.8
367 6.7 R367C R367H
368 7.2
369 5.3 M369K
370 5.4 T370M
371 9.5 Q371E
372 8.6
373 11.9
374 12.2
377 12.2
392 14.1
393 13.6
396 10.3
397 11.2 I397V
399 14.8
400 10.5 G400E G400R G400R
401 9.3
402 13.7 F402L F402L F402L
403 14.9
404 10.2
405 10.6
406 14.5 N406K N406K N406S
407 14.5
408 12.7
894 12.6
897 11.2
898 13.3
899 7.5
900 9.9
902 14.5
903 10.8
904 12.7
907 14.4
915 14.6
916 10.2
917 11.8
918 13.6
919 11.9
920 7.5
921 12.1
922 12.4
923 8.7
924 10.2 V924I
925 14.3
926 14.3
927 12 N927S
928 10.6