L399P Summary

SCN5A L399P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L399P is not present in gnomAD. L399P has been functionally characterized in 0 papers. Other variants at the same resdue are L399M .L399P .L399Q .L399R .L399V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L399P 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 0.988

L399P has 63 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
256 12.6
257 12.7
259 13
260 9.4
261 12
262 14.1
263 11.5 V263I
264 8.7
265 14.3
267 12.8
365 12.3
366 14.8
368 11.4
369 9.8 M369K
370 14 T370M
371 12.6 Q371E
374 14.4
390 13.2
391 10.7
392 10.3
393 11.1
394 7.7
395 5.2
396 6.5
397 7.2 I397V
398 4.6
400 4.8 G400E G400R G400R
401 7.9
402 7.4 F402L F402L F402L
403 5.6
404 9.3
405 12.1
406 11.9 N406K N406K N406S
407 12.7
1624 14.8 V1624I
1628 13.3
1630 14.9
1631 13.2 G1631D
1634 13.9
1646 14.8
1647 12.9
1649 14.2
1650 10.3
1651 12.4
1653 11.6
1654 9
1655 12.4
1656 12.7
1657 9.2
1658 8.9
1659 13.7
1660 12.4 I1660V
1661 10.9 G1661R G1661R
1662 13.9
1664 13
1705 13.5
1708 14.7
1709 14.1 T1709M
1764 13.5
1767 9.6 Y1767C
1768 13.9 I1768V
1770 13.9
1771 12