F402V Summary

SCN5A F402V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F402V is not present in gnomAD. F402V has been functionally characterized in 0 papers. Other variants at the same resdue are F402C .F402I .F402L .F402L .F402L .F402S .F402V .F402Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

F402V 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 0.984

F402V has 73 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
257 14.1
260 13.5
261 14.4
264 13.6
365 13.7
366 13.7
367 14.9 R367C R367H
368 10.6
369 8.7 M369K
370 10.3 T370M
371 7.7 Q371E
372 14.1
374 11.5
390 15
391 14.6
392 13.9
393 12.2
394 9.7
395 10.8
396 9
397 5.7 I397V
398 5.1
399 7.4
400 5.9 G400E G400R G400R
401 4.5
403 6.1
404 8.5
405 7.5
406 7.2 N406K N406K N406S
407 11.1
408 12.4
409 12.3 L409V
410 14
928 13.9
932 14.3
1466 13.3
1469 14.8
1650 12.1
1653 12.2
1654 12.2
1655 14.4
1656 12.6
1657 8.8
1658 11.5
1659 13.8
1660 9.8 I1660V
1661 10.1 G1661R G1661R
1662 14
1663 13.2
1664 9.9
1665 15
1668 14.3
1705 11.7
1706 14
1707 14.2
1708 9.8
1709 8.5 T1709M
1710 12.1 S1710L
1711 13.5
1759 11.1
1760 11.3
1761 14 L1761H
1762 13.5 I1762M
1763 10.2 V1763M
1764 6.7
1765 9.7
1766 11.3 M1766T M1766V
1767 5.4 Y1767C
1768 8 I1768V
1769 11.4
1770 11.1
1771 9.4
1772 12.5