A1407P Summary

SCN5A A1407P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1407P is not present in gnomAD. A1407P has been functionally characterized in 0 papers. Other variants at the same resdue are A1407D .A1407G .A1407P .A1407S .A1407T .A1407V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1407P 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 0.685

A1407P has 62 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
735 11.7 A735E A735T A735V
736 12.3
737 12.8
738 10.4
739 11.4
740 14
1342 13.4
1345 12.2 W1345C W1345C
1346 11.6 L1346P
1347 14.8
1348 13.6
1349 8.7
1350 11.4
1351 13.9
1352 10.4
1353 9.7 V1353M
1354 13.9
1355 13.9
1356 11.3
1357 10.3 A1357V
1358 12.2
1359 13.3
1360 10.8
1397 11.1
1398 10.6 V1398M
1399 10.4
1400 7.2
1401 5.2
1402 6.2
1403 6.8
1404 4.5
1405 5.9 V1405L V1405L V1405M
1406 3.3 G1406E G1406R G1406R
1408 3.4 G1408R G1408R
1409 7
1410 5.1
1411 6.1
1412 8.4
1413 9.6
1414 10.5
1415 12.4
1416 14.1
1420 14 G1420R G1420V
1424 11.3
1427 14.3
1428 14.1 A1428S A1428V
1449 14.6 Y1449C
1450 14.5
1453 14.2
1714 12.7
1717 12.3
1718 12.9
1721 11.4
1722 12.8 N1722D
1723 10.3 T1723N
1724 12.5
1745 12.7
1746 12.8 A1746T A1746V
1748 13.5
1749 10.3
1750 14.2
1753 13.1