N420T Summary

SCN5A N420T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N420T is not present in gnomAD. N420T has been functionally characterized in 0 papers. Other variants at the same resdue are N420D .N420H .N420I .N420K .N420K .N420S .N420T .N420Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

N420T 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 0.844

N420T has 44 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 14.6 P234S
235 10.8
236 12.6
237 11.1
238 6.5
239 9.5 I239V I239V
240 12.4 V240M
241 10.5
242 9.4
243 13
244 14.3
245 12.5 Q245K
246 13.3
411 14.5 V411M
412 12.1
413 10.1 A413T
414 11.3
415 8.6
416 5.2 Y416C
417 5
418 7.5
419 4.9
421 5.2
422 6.4
423 5.7
834 14.1
835 12.8 S835A
837 12.8
838 10.3
839 13.8 L839P
841 12.8 N841K N841K
842 13
933 11.2
934 14.1
935 14.4
936 9.7
937 9.4
938 12.9
939 11.3
940 7.4
941 10.4 S941N
942 14
943 12.8
1780 14.8