F392C Summary

SCN5A F392C was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F392C is not present in gnomAD. F392C has been functionally characterized in 0 papers. Other variants at the same resdue are F392C .F392I .F392L .F392L .F392L .F392S .F392V .F392Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

F392C 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 0.991

F392C 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
260 12.9
261 12.2
262 13.1
263 10.7 V263I
264 6.7
265 9.5
266 11.1
267 6.8
268 7.1
269 11.4
270 11.7 Q270K
271 7.5
272 7.7
273 14
274 14.6
275 12.6
276 12.6 L276Q
353 14.6 T353I
354 13.5
355 9.3 F355I
358 14.7
361 11.5
362 13.9
363 14.7
364 10.9
365 8.8
366 14.1
367 12.8 R367C R367H
368 8.4
369 11.9 M369K
370 14.7 T370M
371 13.4 Q371E
374 10.9
377 10.3
378 9.5
379 14.1
380 13.7
381 9.1
382 10.4
384 13.4
385 11.2 A385T
386 10.5 G386E G386R G386R
387 12.7
388 9.6
389 6.6
390 8.2
391 6.2
393 4.4
394 7.5
395 5.6
396 5.7
397 8.7 I397V
398 11.6
399 10.3
400 11.1 G400E G400R G400R
401 12.6
402 13.9 F402L F402L F402L
1620 11.9 T1620K T1620M
1621 13
1623 13 R1623L R1623Q
1624 10.6 V1624I
1625 14.8
1627 12.4
1628 13.8
1702 13.3
1705 11.9
1706 14.2