A344E Summary

SCN5A A344E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A344E is not present in gnomAD. A344E has been functionally characterized in 0 papers. Other variants at the same resdue are A344E .A344G .A344P .A344S .A344T .A344V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A344E 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 0.693

A344E has 43 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 12.9
274 8.5
275 10.5
276 10.1 L276Q
277 5.2
278 7.3
279 5.1
280 9.7
281 8.3 V281M
282 14.1 R282C R282H
283 13.7
317 8.4
318 12.7
319 10.9 G319S
320 7.8 T320N
321 9
322 11.1
323 9.6
324 12.7
325 10.4
326 12.1
327 12.4
328 14.5
339 14.3
340 11.5 R340Q R340W
341 9.1 C341Y
342 5.9
343 4.9
345 3.3
346 7 E346K
347 8.6
348 10.5
349 14.3 D349N
351 11.7 G351S G351V
352 15
353 13.3 T353I
354 12
356 12.2 D356N
380 14.2
384 12.3
1549 14.9
1550 10.2
1551 11.4 D1551N