T742R Summary

SCN5A T742R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T742R is not present in gnomAD. T742R has been functionally characterized in 0 papers. Other variants at the same resdue are T742A .T742I .T742K .T742P .T742R .T742S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T742R 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 0.85

T742R has 22 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
733 13.6 F733L F733L F733L
735 14 A735E A735T A735V
736 9.6
737 10.8
738 8.1
739 10
740 6.6
741 5.2
743 4.3
744 5.3
745 4.4
746 5.9 E746K
747 9.7
748 8.9
749 9.6
750 12.8
751 13.8 V751I
1353 14.9 V1353M
1357 14.4 A1357V
1358 14.5
1403 13.7
1404 14