D349V Summary

SCN5A D349V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D349V is not present in gnomAD. D349V has been functionally characterized in 0 papers. Other variants at the same resdue are D349A .D349E .D349E .D349G .D349H .D349N .D349V .D349Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D349V 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 0.954

D349V 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
274 14.7
276 10.5 L276Q
277 12.1
278 14.8
279 12.1
321 12.2
322 8.6
323 10.2
324 10.5
325 10.9
344 14.3
345 12.5
346 9.9 E346K
347 6.9
348 4.3
350 4.6
351 6.6 G351S G351V
352 8.5
353 6.3 T353I
354 10
355 13.5 F355I
356 14.6 D356N
360 12.4
361 14.9
363 12.9
364 12.2
367 11.4 R367C R367H
372 13.1
373 11
374 14.6
375 12.2
376 6.9 R376H
377 9.7
379 12.3
380 8.3
381 13
383 13.7
384 14.6
871 12.3
872 10.8 D872N
873 14.9
898 14.9
899 13.8
900 9.6
901 9.1 E901K
902 12.6
903 11.9
904 7.3
905 10.1
906 14.1
907 12.3
908 10.6
909 14.9
912 14.7 Q912R