C1341G Summary

SCN5A C1341G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1341G is not present in gnomAD. C1341G has been functionally characterized in 0 papers. Other variants at the same resdue are C1341F .C1341G .C1341R .C1341S .C1341S .C1341W .C1341Y . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

C1341G 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 0.935

C1341G has 66 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
815 13.8
816 13.6 F816Y
818 14.4
819 13.9
822 13
824 11.4
825 10.6
827 14.4
828 10.5
829 13.2
832 13.8
938 14
942 13.7
1331 14.4
1332 14.8 P1332L
1333 12
1334 9.9 I1334V
1335 10.8 M1335R
1336 9.5
1337 5.6
1338 5.3 L1338V
1339 6.7 p.L1339del
1340 4.2 V1340I
1342 5.3
1343 6.5
1344 5.8
1345 4.9 W1345C W1345C
1346 9.1 L1346P
1347 10.5
1348 10.8
1349 12.3
1350 14.8
1405 14.6 V1405L V1405L V1405M
1406 14.8 G1406E G1406R G1406R
1408 14.2 G1408R G1408R
1409 9.6
1410 13.7
1411 14.4
1412 11.3
1413 10.2
1414 14.8
1415 13.6
1416 10.7
1417 12.9
1453 10.8
1454 13
1455 13.4
1456 10.6
1457 7.7
1458 10.3
1459 13.3
1460 9
1461 5.4 T1461S T1461S
1462 8.3
1463 11
1464 8.4
1465 8.2
1466 13.8
1467 13.6
1468 12.7
1753 13.2
1756 13.1
1757 11.2
1760 13.6
1761 10.5 L1761H
1762 13.8 I1762M