A364V Summary

SCN5A A364V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A364V is not present in gnomAD. A364V has been functionally characterized in 0 papers. Other variants at the same resdue are A364E .A364G .A364P .A364S .A364T .A364V . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A364V 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 0.7

A364V has 77 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
258 13.7
260 13.7
261 9.4
262 12.1
263 13.2 V263I
264 10.7
265 8.2
266 12.4
267 12
268 9.3
269 11
270 14.6 Q270K
271 13.4
272 10.8
273 14.1
274 13.9
275 14.3
276 10.9 L276Q
277 14.6
347 12.2
348 12
349 12.2 D349N
350 13
351 11.5 G351S G351V
352 10.5
353 7.1 T353I
354 7.7
355 6.4 F355I
356 11.1 D356N
357 10.6
358 10.2
359 8.8
360 7.9
361 5.2
362 6.8
363 4.1
365 4.5
366 6.8
367 4.7 R367C R367H
368 6.2
369 9.5 M369K
370 9.6 T370M
371 11.4 Q371E
372 9.2
373 10.5
374 10.5
375 13.4
376 11.7 R376H
377 7.1
378 12.8
379 14.6
380 11.9
381 11.5
392 10.9
393 10.6
395 14.4
396 10
397 11.9 I397V
400 13.5 G400E G400R G400R
401 12.9
897 14.4
898 14.7
899 9.7
900 8.9
901 13.9 E901K
902 14.7
903 10.8
904 9.8
907 13.1
912 14.3 Q912R
916 11.6
917 14.9
919 14.6
920 12.1
923 14
1546 14.8