T612S Summary

SCN5A T612S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T612S is not present in gnomAD. T612S has been functionally characterized in 0 papers. Other variants at the same resdue are T612A .T612I .T612K .T612P .T612R .T612S . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

T612S 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 0.337

T612S 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
597 14.7
598 14.2
599 13.7 G599R G599R
600 13.2
601 12.6
602 12
603 11.4
604 10.7 L604V
605 10.1
606 9.3
607 8.5 G607V
608 7.6 D608N
609 6.6
610 5.4
611 3.8
613 3.8
614 5.4
615 6.6 G615E
616 7.6
617 8.5
618 9.3 L618F
619 10.1 L619F
620 10.7 R620C R620H
621 11.4
622 12
623 12.6
624 13.2 L624Q
625 13.7 E625D E625D
626 14.2
627 14.7 P627L