A1357G Summary

SCN5A A1357G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1357G is not present in gnomAD. A1357G has been functionally characterized in 0 papers. Other variants at the same resdue are A1357E .A1357G .A1357P .A1357S .A1357T .A1357V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1357G 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 0.802

A1357G has 60 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
734 13.5
735 12.4 A735E A735T A735V
736 11.3
737 8.2
738 8
739 6.3
740 9.8
741 9.8
742 14.4
746 14.2 E746K
749 14.8
805 13.5 S805L
808 11.9 R808C
809 14
1348 14.1
1349 10.2
1350 10.1
1351 10.8
1352 6.2
1353 4.9 V1353M
1354 6.9
1355 6.3
1356 5.6
1358 3.9
1359 5.4
1360 7.9
1361 10.6
1362 14.2
1395 14.1
1397 10.9
1398 11.8 V1398M
1400 12.2
1401 8.2
1402 6.3
1403 5
1404 8.4
1405 10.4 V1405L V1405L V1405M
1406 12 G1406E G1406R G1406R
1407 10.3
1408 9.8 G1408R G1408R
1409 15
1410 14.7
1411 12.5
1412 13.2
1424 13.2
1427 12
1428 10.5 A1428S A1428V
1429 13.7
1430 13.4 D1430N
1431 9.7
1432 13.3 R1432S R1432S
1433 8.7 G1433W
1434 6.1
1435 11.5
1436 13.3
1438 13.4
1443 14.4 N1443S
1446 13.3
1449 12.3 Y1449C
1450 14.1