A735G Summary

SCN5A A735G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A735G is not present in gnomAD. A735G has been functionally characterized in 0 papers. Other variants at the same resdue are A735E .A735G .A735P .A735S .A735T .A735V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A735G 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

A735G has 56 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
726 14.6
727 12.6
728 10.4 V728I
729 10.2
730 8.9
731 6.3
732 5.4
733 7 F733L F733L F733L
734 5.4
736 4.5
737 6.2
738 9.7
739 13.6
740 14.2
741 11.9
742 14
745 11.4
746 14.2 E746K
748 11.6
749 9.4
750 14.5
752 12.6 G752R G752R
753 12.1
756 13.8
808 12.6 R808C
809 14.1
811 11.5 R811H
812 10.8
814 13 R814Q
815 11.4
818 14.4
1342 12.2
1343 12.4
1345 14.2 W1345C W1345C
1346 8.1 L1346P
1347 10.8
1348 13.4
1349 8.4
1350 6.3
1351 11.9
1352 11
1353 8.3 V1353M
1354 10.2
1355 14.7
1357 12.4 A1357V
1401 14.9
1402 12.8
1403 12.1
1404 8.7
1405 6 V1405L V1405L V1405M
1406 9.7 G1406E G1406R G1406R
1407 11.7
1408 11.2 G1408R G1408R
1409 12
1410 14.7
1412 14.7