F362L Summary

SCN5A F362L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F362L is not present in gnomAD. F362L has been functionally characterized in 0 papers. Other variants at the same resdue are F362C .F362I .F362L .F362L .F362L .F362S .F362V .F362Y . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

F362L 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 0.743

F362L has 61 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
254 12.4
255 13.5
256 13.6
257 9.9
258 8
259 11.5
260 10.3
261 5.5
262 7.3
263 10.1 V263I
264 10
265 6.3
266 10.1
267 11.8
268 10.6
269 10.7
270 14.3 Q270K
272 14.2
352 13.1
353 12.5 T353I
354 11.6
355 9.7 F355I
356 12.2 D356N
357 9.6
358 6.2
359 5.9
360 8.4
361 5.4
363 5.4
364 6.8
365 5.8
366 6.5
367 10.2 R367C R367H
368 10.4
369 9.8 M369K
370 11.7 T370M
372 13.8
377 13.8
392 13.9
396 11.9
397 14.8 I397V
400 13.6 G400E G400R G400R
401 14
404 13.8
899 12.3
900 13.1
903 12.8
904 13.5
907 14.2
912 13.9 Q912R
916 10.2
917 12
919 14.9
920 10.4
921 14.9
923 14.3
924 14.7 V924I
1542 13.8
1543 14.4 V1543A V1543L V1543L
1546 10.5
1547 14.8