A422T Summary

SCN5A A422T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A422T is not present in gnomAD. A422T has been functionally characterized in 0 papers. Other variants at the same resdue are A422D .A422G .A422P .A422S .A422T .A422V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A422T 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 0.768

A422T has 25 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
235 12.9
236 13.9
237 10.6
238 9.4
239 13 I239V I239V
240 13.7 V240M
241 10.9
242 11.3
244 14.3
245 11.9 Q245K
246 15
249 14.9
413 13.9 A413T
414 12.7
415 10.3
416 10.3 Y416C
417 8.8
418 6.6
419 5
420 6.4
421 5.2
423 3.9
940 13.5
1780 14.5
1783 14.9