E417A Summary

SCN5A E417A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E417A is not present in gnomAD. E417A has been functionally characterized in 0 papers. Other variants at the same resdue are E417A .E417D .E417D .E417G .E417K .E417Q .E417V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E417A 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 0.789

E417A has 50 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
238 10.4
239 12.1 I239V I239V
241 12.4
242 10.3
243 13.9
245 12.3 Q245K
246 12.2
249 13.1
409 12.4 L409V
410 11.1
411 11.2 V411M
412 9.7
413 6.5 A413T
414 7.5
415 6.6
416 5.3 Y416C
418 6.1
419 7.4
420 5
421 5.4
422 8.8
423 9.9
838 13.5
842 14.9
932 13.9
933 10.8
934 14
935 12.4
936 7.9
937 9.9
938 12.1
939 8.7
940 6.7
941 10.7 S941N
942 13.5
943 11.2
1467 14.1
1470 13.2
1471 13.3
1474 14
1489 12.6 E1489D E1489D
1772 12.4
1773 13
1775 12.6
1776 10.4
1777 13.7 V1777M
1778 14.8
1779 11.7 T1779M
1780 10.5
1783 14