T644N Summary

SCN5A T644N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T644N is not present in gnomAD. T644N has been functionally characterized in 0 papers. Other variants at the same resdue are T644A .T644I .T644N .T644P .T644S .T644S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T644N 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 0.376

T644N has 30 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
629 14.7
630 14.2 T630M
631 13.7
632 13.2 T632M
633 12.6
634 12 S634L
635 11.4
636 10.7
637 10.1
638 9.3
639 8.5 G639R G639R
640 7.6 P640A
641 6.6
642 5.4
643 3.8
645 3.8
646 5.4
647 6.6 A647D A647S A647V
648 7.6 P648L
649 8.5 C649Y
650 9.3
651 10.1
652 10.7
653 11.4
654 12 E654K
655 12.6 E655K
656 13.2 P656L
657 13.7
658 14.2
659 14.7 R659Q R659W