T512S Summary

SCN5A T512S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T512S is not present in gnomAD. T512S has been functionally characterized in 0 papers. Other variants at the same resdue are T512A .T512I .T512N .T512P .T512S .T512S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T512S 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 0.53

T512S 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
497 14.7
498 14.2
499 13.7
500 13.2
501 12.6
502 12
503 11.4
504 10.7 R504T
505 10.1
506 9.3 M506K
507 8.5
508 7.6
509 6.6
510 5.4
511 3.8
513 3.8 R513C
514 5.4 G514C
515 6.6
516 7.6
517 8.5
518 9.3
519 10.1
520 10.7 M520V
521 11.4 K521E
522 12
523 12.6 R523C R523H
524 13.2 S524Y
525 13.7
526 14.2 R526C R526H
527 14.7 G527R G527R