G400W Summary

SCN5A G400W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. G400W is not present in gnomAD. G400W has been functionally characterized in 0 papers. Other variants at the same resdue are G400A .G400E .G400R .G400R .G400V .G400W . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

G400W 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 0.957

G400W has 68 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
253 12.4
254 13.1
255 14.7
256 10.4
257 9.1
258 12.4
259 11.8
260 7.6
261 9
262 12.5
263 11.2 V263I
264 8.5
265 12.9
267 13.4
362 13.6
364 13.5
365 9.6
366 10.5
367 13.4 R367C R367H
368 8.7
369 5.3 M369K
370 9.7 T370M
371 9.3 Q371E
372 14.3
374 12.5
391 13.6
392 11.1
393 11.2
394 10
395 8
396 5.6
397 5.7 I397V
398 6.8
399 4.8
401 3.8
402 5.9 F402L F402L F402L
403 5.1
404 5.3
405 7.9
406 9 N406K N406K N406S
407 9.7
408 11.5
409 13.8 L409V
410 14.5
928 13.5
1631 14.9 G1631D
1634 14.9
1646 13.6
1647 12.8
1649 14.4
1650 10.5
1651 14.3
1653 13
1654 11.9
1657 11.2
1658 12.7
1660 14.3 I1660V
1661 13.7 G1661R G1661R
1664 14.6
1705 14.4
1708 14.5
1709 12.6 T1709M
1764 12.6
1767 9.8 Y1767C
1768 12.2 I1768V
1770 14.2
1771 11.2
1772 14.7