W374S Summary

SCN5A W374S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. W374S is not present in gnomAD. W374S has been functionally characterized in 0 papers. Other variants at the same resdue are W374C .W374C .W374G .W374L .W374R .W374R .W374S . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

W374S 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 0.908

W374S 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
264 14.4
272 14.5
276 14.5 L276Q
349 14.6 D349N
353 13.1 T353I
355 13.6 F355I
361 15
363 13.7
364 10.5
365 10.9
366 12.2
367 7.6 R367C R367H
368 6.1
369 10.7 M369K
370 9.2 T370M
371 6 Q371E
372 7.5
373 6.6
375 5.7
376 8.9 R376H
377 6.4
378 6
379 8.6
380 10.7
381 10.5
382 11.1
383 14.7
386 14.3 G386E G386R G386R
389 13.9
390 11.5
391 13.5
392 10.9
393 6.9
394 10.7
395 13
396 9.6
397 7.3 I397V
398 12.7
399 14.4
400 12.5 G400E G400R G400R
401 10.5
402 11.5 F402L F402L F402L
405 14.5
897 12.4
898 12.2
899 12.4
900 11.9
901 14.5 E901K
1417 14.3
1418 14.4
1419 10.9
1664 15
1668 14.5
1687 13.6
1692 12.2
1701 14 M1701I M1701I M1701I
1702 10.9
1703 11.1
1704 11.9
1705 8.6
1706 6
1707 10
1708 9.6
1709 6.6 T1709M
1710 8.9 S1710L
1711 6.3
1712 9.1 G1712S
1713 11.6
1714 14.9
1715 13.7
1716 13
1755 15
1759 14.4
1760 13.4
1764 14.1