A1411P Summary

SCN5A A1411P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1411P is not present in gnomAD. A1411P has been functionally characterized in 0 papers. Other variants at the same resdue are A1411D .A1411G .A1411P .A1411S .A1411T .A1411V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1411P 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 0.912

A1411P has 71 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
1341 14.4
1342 13.4
1345 9.9 W1345C W1345C
1346 12.4 L1346P
1347 14.3
1348 11.3
1349 9.1
1350 12.9
1351 13.1
1352 10.5
1353 11.9 V1353M
1355 13.5
1356 10.4
1357 12.5 A1357V
1358 14.3
1359 13.7
1360 10.4
1397 13.4
1398 10.6 V1398M
1399 11
1400 5.8
1401 7
1402 6.2
1403 10.8
1404 10
1405 9.9 V1405L V1405L V1405M
1406 8.1 G1406E G1406R G1406R
1407 6.1
1408 4.5 G1408R G1408R
1409 6.9
1410 4.8
1412 4.1
1413 5.6
1414 5.2
1415 6.4
1416 8.7
1417 9.8
1418 11.5
1419 11.2
1420 8.8 G1420R G1420V
1421 10
1422 12.2
1423 11.2
1424 6.8
1425 10.9
1426 14.8
1427 11.7
1428 11.3 A1428S A1428V
1429 14.8
1431 15
1449 11.4 Y1449C
1450 9.8
1453 9.8
1454 12.2
1457 13
1458 13.2
1462 14.7
1710 14.6 S1710L
1712 13.8 G1712S
1713 11.9
1714 9.3
1715 13.3
1717 11
1718 12.2
1721 12.9
1723 13.8 T1723N
1748 14.4
1749 11.8
1752 13.6
1753 12.3
1756 13.4