F358C Summary

SCN5A F358C was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F358C is not present in gnomAD. F358C has been functionally characterized in 0 papers. Other variants at the same resdue are F358C .F358I .F358L .F358L .F358L .F358S .F358V .F358Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

F358C 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 0.98

F358C has 52 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
257 14.2
258 11
259 12.5
260 12.8
261 9.4
262 7.3
263 9.8 V263I
264 11.1
265 5.6
266 6.6
267 10.2
268 8.8
269 6.5
270 10 Q270K
271 13
272 12.7
273 11
274 14.2
352 13.9
353 13.5 T353I
354 10.8
355 8.9 F355I
356 8.7 D356N
357 5.5
359 4.8
360 8.5
361 5.3
362 6.2
363 9.6
364 10.2
365 9.6
366 12.5
367 14.7 R367C R367H
368 14.5
392 14.7
396 14.9
916 14.2
1539 14.4 C1539Y
1540 14.9
1541 13.9
1542 10.2
1543 9.7 V1543A V1543L V1543L
1544 11.5
1545 9.9
1546 5.2
1547 8.6
1548 9.6 E1548K G1548K
1549 9.8
1550 13
1552 14.2
1623 14.5 R1623L R1623Q
1627 12.8