A413P Summary

SCN5A A413P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A413P is not present in gnomAD. A413P has been functionally characterized in 0 papers. Other variants at the same resdue are A413E .A413G .A413P .A413S .A413T .A413V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

A413P 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 0.901

A413P has 72 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 12.7
239 12.1 I239V I239V
240 14.7 V240M
241 12.4
242 9.3
243 11.5
244 13.7
245 11.1 Q245K
246 8.5
247 12.6 V247L V247L
248 14.6
249 10.2
250 11.6
253 14
404 14.8
405 12.7
406 10.9 N406K N406K N406S
407 10.5
408 9.4
409 6.1 L409V
410 5.2
411 5.9 V411M
412 4.1
414 4.9
415 5.3
416 6.1 Y416C
417 6.5
418 8.7
419 10.6
420 10.1
421 11.7
422 13.9
838 15
842 13.6
926 15
927 14.3 N927S
928 12.3
929 10.3
930 11.7
931 12.4
932 8.2
933 7.5
934 11.3
935 8.3
936 5.4
937 9.7
938 10.9
939 7.8
940 9.4
941 12.6 S941N
942 14.2
943 13.6
1463 13.7
1466 12.1
1467 11.9
1470 10.7
1471 13
1474 14
1646 13.8
1768 11.9 I1768V
1769 12
1770 14.6
1771 11.8
1772 7.8
1773 10.7
1774 13.3
1775 8.8
1776 8.9
1777 12.9 V1777M
1778 13.3
1779 10.6 T1779M
1780 11.9