E346V Summary

SCN5A E346V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E346V is not present in gnomAD. E346V has been functionally characterized in 0 papers. Other variants at the same resdue are E346A .E346D .E346D .E346G .E346K .E346Q .E346V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E346V 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 0.506

E346V has 42 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
273 14.7
274 11.1
275 13.7
276 10.8 L276Q
277 6.8
278 12.1
279 8.6
280 13.8
281 13.5 V281M
317 10.7
318 14.6
319 12.9 G319S
320 9.7 T320N
321 8.4
322 9
323 10.3
324 13.5
325 12.4
342 12.7
343 10.6
344 7
345 3.9
347 4.7
348 7.5
349 9.9 D349N
350 9.7
351 5.8 G351S G351V
352 9
353 9.8 T353I
354 9.9
355 14.4 F355I
356 11 D356N
357 13.7
360 12.2
380 13.7
871 14.6
872 13.7 D872N
904 13.1
908 12.9
912 14.7 Q912R
1550 11.9
1551 14.2 D1551N