T631S Summary

SCN5A T631S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T631S is not present in gnomAD. T631S has been functionally characterized in 0 papers. Other variants at the same resdue are T631A .T631I .T631N .T631P .T631S .T631S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T631S 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 0.454

T631S 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
616 14.7
617 14.2
618 13.7 L618F
619 13.2 L619F
620 12.6 R620C R620H
621 12
622 11.4
623 10.7
624 10.1 L624Q
625 9.3 E625D E625D
626 8.5
627 7.6 P627L
628 6.6
629 5.4
630 3.8 T630M
632 3.8 T632M
633 5.4
634 6.6 S634L
635 7.6
636 8.5
637 9.3
638 10.1
639 10.7 G639R G639R
640 11.4 P640A
641 12
642 12.6
643 13.2
644 13.7
645 14.2
646 14.7