T423S Summary

SCN5A T423S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T423S is not present in gnomAD. T423S has been functionally characterized in 0 papers. Other variants at the same resdue are T423A .T423I .T423N .T423P .T423S .T423S . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

T423S 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 0.748

T423S has 23 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
234 13.6 P234S
235 9.7
236 11.5
237 8.8
238 7.3
239 11.5 I239V I239V
240 12.8 V240M
241 11
242 11.6
245 13.7 Q245K
415 12
416 10.2 Y416C
417 9.9
418 9.5
419 5.7
420 5.7
421 6.8
422 3.9
837 14.3
838 12.8
841 14.2 N841K N841K
937 14.3
940 12.7