E375A Summary

SCN5A E375A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E375A is not present in gnomAD. E375A has been functionally characterized in 0 papers. Other variants at the same resdue are E375A .E375D .E375D .E375G .E375K .E375Q .E375V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E375A 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 0.959

E375A has 70 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
276 14.6 L276Q
324 13.9
325 13.9
348 13.4
349 12.2 D349N
353 13.1 T353I
364 13.4
367 10.1 R367C R367H
368 11.1
370 13.2 T370M
371 10.5 Q371E
372 9.2
373 5.9
374 5.7
376 5.4 R376H
377 7.4
378 7.1
379 5.6
380 8.8
381 11.1
382 11.1
383 12.2
386 14.9 G386E G386R G386R
390 14.3
393 11.1
397 12.9 I397V
893 14.8 R893C R893H
897 13.6
898 11.7
899 13.9
900 12
901 12.4 E901K
904 14.9
1414 13.9
1417 13.7
1418 13.9
1419 8.9
1420 11.6 G1420R G1420V
1421 14.1
1422 14.5
1423 14.5
1685 14.7
1686 10.8
1687 8.5
1688 11.7
1689 11.7
1691 12.8
1692 9.5
1693 14.6
1699 14.4
1700 14.7
1702 11.1
1703 9.7
1704 12.2
1705 11.2
1706 5.6
1707 9.7
1708 11.9
1709 9.6 T1709M
1710 9.5 S1710L
1711 5.5
1712 5.6 G1712S
1713 10
1714 10.7
1715 8.9
1716 9.1
1717 13.2
1718 14.2
1719 14.2
1752 14.3