V412A Summary

SCN5A V412A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V412A is not present in gnomAD. V412A has been functionally characterized in 0 papers. Other variants at the same resdue are V412A .V412D .V412F .V412G .V412I .V412L . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

V412A 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 0.946

V412A has 69 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
238 12.6
239 10.8 I239V I239V
240 12.7 V240M
241 10.7
242 7.6
243 8.5
244 11.1
245 9.3 Q245K
246 5.2
247 9 V247L V247L
248 11.9
249 8.5
250 8.4
251 13
252 14.3
253 11.6
254 13.1
404 12.9
405 10.7
406 10.3 N406K N406K N406S
407 9.3
408 6.6
409 5.3 L409V
410 5.6
411 4.4 V411M
413 4.1 A413T
414 6.4
415 5.5
416 7.3 Y416C
417 9.7
418 10.1
419 11.3
420 12.1
421 14.5
842 12.3
845 14.7
846 14.7
923 14.8
924 11.6 V924I
925 12
926 11.5
927 11.1 N927S
928 8.8
929 6.5
930 8.8
931 10.2
932 6
933 5.8
934 10.9
935 8.5
936 7
937 10.7
938 12.3
939 10.7
940 12.3
1463 13.8
1466 13.6
1467 14.2
1470 13.6
1646 13.6
1768 12.7 I1768V
1769 14
1771 12.8
1772 9.8
1773 13.8
1775 10.2
1776 11.9
1779 12.7 T1779M
1780 14.9