V396G Summary

SCN5A V396G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V396G is not present in gnomAD. V396G has been functionally characterized in 0 papers. Other variants at the same resdue are V396A .V396D .V396F .V396G .V396I .V396L . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

V396G 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

V396G has 65 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 14
257 12
258 13.7
259 13
260 9.2
261 8.8
262 11.5
263 9.8 V263I
264 5.5
265 9.6
266 12.6
267 9.4
268 10.3
269 14.1
271 12.6
272 12.3
355 11.7 F355I
358 14.9
361 11.9
362 11.9
363 13.2
364 10
365 6.6
366 10.3
367 10.8 R367C R367H
368 5.5
369 6.6 M369K
370 10.2 T370M
371 9.2 Q371E
372 13
373 14.4
374 9.6
377 11.2
378 11.4
381 12.9
382 14.4
388 14.6
389 12.2
390 11.2
391 9.6
392 5.7
393 6.1
394 7.4
395 5
397 4.4 I397V
398 8.1
399 6.5
400 5.6 G400E G400R G400R
401 7
402 9 F402L F402L F402L
403 10.2
404 10.3
405 12.2
406 14 N406K N406K N406S
1624 13.9 V1624I
1627 14
1628 14.6
1657 14.9
1658 15
1661 14.9 G1661R G1661R
1705 11.9
1706 13.9
1708 14.1
1709 12.2 T1709M
1767 13.6 Y1767C