A415V Summary

SCN5A A415V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A415V is not present in gnomAD. A415V has been functionally characterized in 0 papers. Other variants at the same resdue are A415D .A415G .A415P .A415S .A415T .A415V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A415V 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 0.854

A415V has 60 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
237 13.3
238 10.1
239 10.1 I239V I239V
240 11.4 V240M
241 8.2
242 5.8
243 9
244 9.6
245 6.3 Q245K
246 6
247 10.1 V247L V247L
248 10.6
249 6.9
250 10.5
251 13.9
252 14.7
253 13.8
406 14.9 N406K N406K N406S
407 12.8
408 11.3
409 10.2 L409V
410 8.5
411 6.4 V411M
412 5.5
413 5.3 A413T
414 4.3
416 5.8 Y416C
417 6.6
418 4.7
419 6.7
420 8.6
421 10
422 10.3
423 12
842 13.9
928 13.9
929 10.6
930 12.5
931 14.9
932 11.3
933 8.7
934 14.1
935 12.5
936 9
937 11.9
938 14.6
939 12.1
940 11.7
1642 14.5
1646 14.6
1772 12.4
1773 14.9
1775 10.9
1776 11.3
1777 14.9 V1777M
1778 14.3
1779 10.7 T1779M
1780 12
1782 14.4
1783 14.1