C896W Summary

SCN5A C896W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C896W is not present in gnomAD. C896W has been functionally characterized in 0 papers. Other variants at the same resdue are C896F .C896G .C896R .C896S .C896S .C896W .C896Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C896W 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 0.793

C896W has 80 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
367 14.8 R367C R367H
370 11.5 T370M
371 12.6 Q371E
372 10.6
373 12.3
405 14.2
843 14.1
846 10.9
847 13.2
849 13.6
850 11.1 V850M
853 13.3
854 14.8
879 13.2 W879R W879R
887 13.9
888 11.1
889 10.4
890 10.6 I890T
891 9.2
892 5.7 F892I
893 6.8 R893C R893H
894 6.5
895 4.2
897 4.7
898 6.5
899 10.5
900 13.1
901 13.4 E901K
902 12.5
903 15
919 12.8
920 14.4
921 15
922 10.2
923 8.7
924 13 V924I
925 13
926 9.1
927 7.3 N927S
928 11.4
929 13.3
930 11.2
931 8
932 12
933 14.8
934 12.6
935 13.6
1412 14.7
1413 14.6
1414 13.3
1415 9.8
1416 9.3
1417 9.7
1418 5.4
1419 10.3
1420 12.4 G1420R G1420V
1421 8.1
1422 10.4
1424 14.7
1425 12.3
1447 13.8
1448 14.5 I1448L
1450 11.9
1451 10.1
1452 13.5
1453 11.8
1454 7.6
1455 10.1
1456 14
1457 11.2
1458 8
1459 7.2
1460 14.4
1461 14.2 T1461S T1461S
1462 11.4
1463 11.7
1709 14.9 T1709M
1710 12.5 S1710L
1711 14.4
1760 13.9