T731R Summary

SCN5A T731R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T731R is not present in gnomAD. T731R has been functionally characterized in 0 papers. Other variants at the same resdue are T731A .T731I .T731K .T731P .T731R .T731S . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

T731R 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 0.966

T731R 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
722 14.5
723 12.6 I723V
724 10.6 T724I
725 11.3
726 9.4
727 6.4
728 5.2 V728I
729 6.6
730 4.6
732 4.5
733 6.6 F733L F733L F733L
734 4.8
735 6.3 A735E A735T A735V
736 9.9
737 10.6
748 13.4
749 11.3
751 14.9 V751I
752 11.2 G752R G752R
753 10.6
755 14.2
756 10.1
757 13.4
759 14.4 I759V
760 12.2
788 13.6
792 14.9
808 13.2 R808C
809 13.3
810 14.7
811 9.9 R811H
812 8.6
813 11.7
814 8.2 R814Q
815 6.6
816 11.1 F816Y
817 11.2
818 8.7
819 13.2
821 13
822 12.8
825 14.9
1339 14 p.L1339del
1342 11.9
1343 10
1344 13.3
1345 14.9 W1345C W1345C
1346 8.4 L1346P
1347 9.6
1348 13.8
1349 11.1
1350 8.4
1351 12.9
1352 14.3
1353 12.6 V1353M
1354 12.9
1404 14.7
1405 11.1 V1405L V1405L V1405M
1406 14.6 G1406E G1406R G1406R
1409 14.9