I727T Summary

SCN5A I727T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I727T is not present in gnomAD. I727T has been functionally characterized in 0 papers. Other variants at the same resdue are I727F .I727L .I727M .I727N .I727S .I727T .I727V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I727T 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 0.962

I727T has 52 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
719 12.2
720 10.2
721 10.3
722 9
723 6.3 I723V
724 5.1 T724I
725 7.3
726 4.9
728 4.7 V728I
729 6.7
730 5.6
731 6.4
732 9.2
733 9.9 F733L F733L F733L
734 9.7
735 12.6 A735E A735T A735V
749 14.8
752 11.9 G752R G752R
753 11.7
755 12.5
756 8.1
757 11.2
758 12.6
759 10.1 I759V
760 7.7
761 13.5
762 14
763 11.8 E763K
764 12.7 M764K
781 13.1
784 12.2
785 10.9 D785N
788 10.8
789 13.1 V789I
792 13.6
811 11.9 R811H
812 11.2
813 11.4
814 6.8 R814Q
815 7.3
816 10.8 F816Y
817 6.6
818 6.2
819 10.7
820 11.1
821 9.1
822 11.1
825 13.9
1343 12.6
1346 13.4 L1346P
1347 13.2
1350 14