A1416E Summary

SCN5A A1416E was found in 1 paper (see below) with a total of 1 carrier: 1 had BrS1, 0 had LQT3, and 0 had other disease. A1416E is not present in gnomAD. A1416E has been functionally characterized in 0 papers. Other variants at the same resdue are A1416E .A1416G .A1416P .A1416S .A1416T .A1416V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1416E Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2565040820150100
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A1416E 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
Damaging 0 -4.77 probablydamaging 1 0.3453 -3.49 -2 0.96

A1416E has 73 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
892 12.2 F892I
893 13.1 R893C R893H
895 13.1
896 9.3
897 12
898 12
927 14.9 N927S
931 13.6
934 14.8
1337 14.7
1338 13.9 L1338V
1340 14.5 V1340I
1341 10.7
1342 13.1
1344 12.8
1345 8.1 W1345C W1345C
1346 14.1 L1346P
1347 14.6
1348 11.2
1349 13
1400 13.5
1402 13.5
1406 14.7 G1406E G1406R G1406R
1407 14.1
1408 11.7 G1408R G1408R
1409 10.1
1410 10.6
1411 8.7
1412 6.7
1413 5.5
1414 6.5
1415 4.1
1417 3.8
1418 5.1
1419 8.4
1420 10 G1420R G1420V
1421 7.9
1422 11.8
1423 14.2
1424 11.2
1425 12.1
1449 12.3 Y1449C
1450 9.6
1451 11.5
1452 12.3
1453 6.7
1454 6.4
1455 10.4
1456 11.4
1457 6.4
1458 5
1459 8.9
1460 11.9
1461 9.2 T1461S T1461S
1462 6.8
1463 10.5
1464 13.2
1465 12.1
1709 14 T1709M
1710 10 S1710L
1711 12.9
1712 13.2 G1712S
1713 10.4
1714 12.3
1717 14.6
1752 14.5
1753 12.8
1756 10.6
1757 13
1759 14.9
1760 9.9
1761 10.7 L1761H
1765 14.8