Q419P Summary

SCN5A Q419P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q419P is not present in gnomAD. Q419P has been functionally characterized in 0 papers. Other variants at the same resdue are Q419E .Q419H .Q419H .Q419K .Q419L .Q419P .Q419R . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

Q419P 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 0.864

Q419P has 40 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 14.8 P234S
235 10.4
236 10.7
237 8
238 5.6
239 8.3 I239V I239V
240 9.3 V240M
241 6.4
242 6.4
243 10.3
244 10.2
245 8.4 Q245K
246 10.6
247 14 V247L V247L
248 13.4
249 12
410 15
411 13.1 V411M
412 11.3
413 10.6 A413T
414 10.3
415 6.7
416 6.4 Y416C
417 7.4
418 5.4
420 4.9
421 7.2
422 5
423 5.7
837 15
838 12.5
841 13.4 N841K N841K
842 13.5
929 14.7
933 11.3
936 11.8
937 12.2
939 14.6
940 11.7
941 14.8 S941N