T827I Summary

SCN5A T827I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T827I is not present in gnomAD. T827I has been functionally characterized in 0 papers. Other variants at the same resdue are T827A .T827I .T827K .T827P .T827R .T827S . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

T827I 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 0.748

T827I has 38 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
781 13.4
816 14.2 F816Y
818 13.7
819 9.4
820 11.7
821 11.9
822 10.7
823 6.8
824 5.7
825 6.6
826 5
828 5
829 6.6
830 5.6
831 6.3
832 9
833 10.6 G833R G833R
834 10.5
835 12.6 S835A
938 13.8
940 14.9
941 11.3 S941N
942 9.2
943 11.7
944 8.7
1333 13
1336 10.5
1337 11.7
1339 12.2 p.L1339del
1340 10.6 V1340I
1341 14.4
1343 14
1344 13.5
1460 13.4
1461 14.5 T1461S T1461S
1464 12.8
1467 14.9
1468 13.8