C373W Summary

SCN5A C373W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C373W is not present in gnomAD. C373W has been functionally characterized in 0 papers. Other variants at the same resdue are C373F .C373G .C373R .C373S .C373S .C373W .C373Y . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

C373W 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 0.657

C373W has 66 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
348 13.4
349 11 D349N
350 13
353 11.5 T353I
354 15
363 12.1
364 10.5
365 12.9
366 11.9
367 6.1 R367C R367H
368 9.3
369 12.9 M369K
370 9 T370M
371 8.3 Q371E
372 3.8
374 6.6
375 5.9
376 6.5 R376H
377 7.7
378 11
379 10.6
380 11.2
381 13.7
393 12.7
396 14.4
397 12.6 I397V
401 13.9
879 14.7 W879R W879R
893 9.9 R893C R893H
894 11.8
895 14.9
896 12.3
897 8.5
898 6.6
899 8.1
900 6.7
901 8.1 E901K
902 11.2
903 11.6
904 10.7
905 13.7
919 14.3
920 15
923 12.8
927 14.9 N927S
1414 14.3
1417 12.7
1418 11.1
1419 8.1
1420 11 G1420R G1420V
1421 11.5
1422 11.6
1423 13.6
1687 13.8
1705 14.8
1706 10.2
1707 13.4
1708 14.2
1709 10.4 T1709M
1710 10 S1710L
1711 7.7
1712 9 G1712S
1713 12.3
1714 12.9
1715 12.8
1716 13.9