I829T Summary

SCN5A I829T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I829T is not present in gnomAD. I829T has been functionally characterized in 0 papers. Other variants at the same resdue are I829F .I829L .I829M .I829N .I829S .I829T .I829V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

I829T 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 0.97

I829T has 46 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
780 12.5
781 10.1
784 12.3
813 13.9
815 12.6
816 9 F816Y
817 12.5
818 11.6
819 7.1
820 10.6
821 12
822 11.7
823 10.4
824 9.1
825 6
826 6.2
827 6.6
828 4.3
830 6.3
831 6.6
832 4.8
833 6.7 G833R G833R
834 9
835 9.7 S835A
836 10.5
837 14
838 14.6
839 12.7 L839P
937 15
938 13.5
941 12 S941N
942 10.6
944 13.8
1336 13.9
1337 13.2
1339 13 p.L1339del
1340 10 V1340I
1341 13.2
1343 11.8
1344 9.9
1347 13.7
1456 11.7
1457 14.8
1460 10.8
1461 12.7 T1461S T1461S
1464 13