A838T Summary

SCN5A A838T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A838T is not present in gnomAD. A838T has been functionally characterized in 0 papers. Other variants at the same resdue are A838E .A838G .A838P .A838S .A838T .A838V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A838T 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 0.915

A838T has 55 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
230 13.2 I230T I230V
231 14.9
232 14 V232I
233 9.6
234 8.5 P234S
235 7.9
236 10.2
237 12.5
238 7.9
239 7.9 I239V I239V
240 12.2 V240M
241 13.5
242 12.4
243 13.4
413 15 A413T
416 9.7 Y416C
417 13.5
419 12.5
420 10.3
423 12.8
829 14.6
830 14.5
831 11.2
832 10
833 9.3 G833R G833R
834 9.1
835 5.1 S835A
836 6.2
837 3.4
839 4.5 L839P
840 5.1
841 4.7 N841K N841K
842 6.4
843 8.3
844 9.5
845 10.6
846 12.5
847 14.2
848 14.9 I848F
930 12.6
931 14.2
933 10.3
934 9.4
935 13.3
936 10.8
937 6.7
938 10.3
939 13.1
940 10
941 9.1 S941N
942 11.9
1455 14
1456 14.3
1459 14.6
1460 12.5