T632A Summary

SCN5A T632A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T632A is not present in gnomAD. T632A has been functionally characterized in 0 papers. Other variants at the same resdue are T632A .T632K .T632M .T632P .T632R .T632S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T632A 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 0.655

T632A 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
617 14.7
618 14.2 L618F
619 13.7 L619F
620 13.2 R620C R620H
621 12.6
622 12
623 11.4
624 10.7 L624Q
625 10.1 E625D E625D
626 9.3
627 8.5 P627L
628 7.6
629 6.6
630 5.4 T630M
631 3.8
633 3.8
634 5.4 S634L
635 6.6
636 7.6
637 8.5
638 9.3
639 10.1 G639R G639R
640 10.7 P640A
641 11.4
642 12
643 12.6
644 13.2
645 13.7
646 14.2
647 14.7 A647D A647S A647V