F393Y Summary

SCN5A F393Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F393Y is not present in gnomAD. F393Y has been functionally characterized in 0 papers. Other variants at the same resdue are F393C .F393I .F393L .F393L .F393L .F393S .F393V .F393Y . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

F393Y 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 0.954

F393Y has 73 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 13.8
263 14.1 V263I
264 9.8
265 12.2
266 14.8
267 10.9
268 10.2
269 14.4
271 11
272 9.6
275 13.8
276 12.4 L276Q
332 14.8 A332T
353 13.7 T353I
354 13.9
355 10.6 F355I
361 13
363 14.6
364 10.6
365 9.4
366 13.6
367 10.8 R367C R367H
368 6.7
369 11.3 M369K
370 12.8 T370M
371 10.4 Q371E
372 13
373 12.7
374 6.9
375 11.1
376 12.9 R376H
377 7.7
378 5.6
379 10.6
380 11.4
381 7.7
382 8.3
383 14.1
384 12.8
385 11.3 A385T
386 9.9 G386E G386R G386R
387 11.5
388 10.1
389 7.8
390 6.7
391 7.2
392 4.4
394 6.4
395 7.5
396 6.1
397 6.7 I397V
398 10.7
399 11.1
400 11.2 G400E G400R G400R
401 11.4
402 12.2 F402L F402L F402L
1624 14.8 V1624I
1668 14.6
1691 14.6
1692 13
1698 14.5 A1698T
1699 14.8
1701 12.7 M1701I M1701I M1701I
1702 10
1703 12.9
1704 13.5
1705 8.4
1706 9.9
1707 14
1708 12.5
1709 11.2 T1709M
1710 14.8 S1710L
1711 12.5