D356V Summary

SCN5A D356V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D356V is not present in gnomAD. D356V has been functionally characterized in 0 papers. Other variants at the same resdue are D356A .D356E .D356E .D356G .D356H .D356N .D356V .D356Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D356V 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 0.987

D356V has 54 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
265 10.7
266 11.3
267 13
268 9.2
269 6.5
270 9.9 Q270K
271 11.7
272 9.5
273 5.8
274 6.7
275 9.6
276 8.9 L276Q
277 7.5
278 12.6
279 14.5
343 10.6
344 12.2
345 11.6
346 11 E346K
347 9
348 11.8
349 14.6 D349N
350 14.9
351 9.7 G351S G351V
352 10.1
353 9.1 T353I
354 5.2
355 6.6 F355I
357 4
358 8.7
359 8.1
360 7.3
361 7.4
362 12.2
363 11.6
364 11.1
365 13.2
377 14
380 14.7
381 13.8
384 14.6
904 14.5
912 14.6 Q912R
1545 13.4
1546 11.7
1547 11.1
1548 9.3 E1548K G1548K
1549 6.1
1550 5.7
1551 9.4 D1551N
1552 10.2
1553 14.1
1556 14.8
1623 14.8 R1623L R1623Q