F398L Summary

SCN5A F398L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F398L is not present in gnomAD. F398L has been functionally characterized in 0 papers. Other variants at the same resdue are F398C .F398I .F398L .F398L .F398L .F398S .F398V .F398Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

F398L 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 0.953

F398L has 61 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
260 13.5
264 12.2
365 14.4
368 11.8
369 11.1 M369K
370 13.9 T370M
371 11.1 Q371E
374 12.7
378 14.4
390 11.7
391 10.6
392 11.6
393 10.7
394 6
395 7.3
396 8.1
397 6.2 I397V
399 4.6
400 6.8 G400E G400R G400R
401 7.8
402 5.1 F402L F402L F402L
403 6.8
404 11.2
405 12
406 11.4 N406K N406K N406S
407 14
1650 12.3
1651 14.9
1653 11.7
1654 10
1655 12
1656 11.2
1657 7.6
1658 7.9
1659 11.3
1660 8.8 I1660V
1661 7.1 G1661R G1661R
1662 10.6
1663 11.8
1664 8.4
1665 11.6
1666 14.8
1667 14.1 V1667I
1668 12.5
1701 14.2 M1701I M1701I M1701I
1704 14.4
1705 10.2
1706 14.4
1708 10.6
1709 10.8 T1709M
1759 12.7
1760 14.7
1763 11.5 V1763M
1764 9.7
1765 13.3
1766 13 M1766T M1766V
1767 6.8 Y1767C
1768 11.8 I1768V
1769 14.1
1770 12.3
1771 11.6