R383K Summary

SCN5A R383K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R383K is not present in gnomAD. R383K has been functionally characterized in 0 papers. Other variants at the same resdue are R383G .R383K .R383M .R383S .R383S .R383T .R383W . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R383K 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 0.886

R383K has 62 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
272 13.5
274 14
275 11.7
276 10.1 L276Q
277 14.1
278 9.8
279 10.8
280 9.5
281 14.3 V281M
322 13.7
323 9.9
324 6.4
325 4.9
326 5.5
327 7.1
328 10.6
329 10
330 11.9
331 10.3
332 6.3 A332T
333 5.1
334 7
335 9.7 C335R
336 11.4 P336L
339 13.8
341 11.2 C341Y
342 14
347 14.1
348 11.5
349 13.7 D349N
353 14.1 T353I
374 14.7
375 12.2
376 10.8 R376H
377 11.5
378 9.9
379 6.8
380 6.5
381 7.6
382 6.6
384 6
385 8.4 A385T
386 8.4 G386E G386R G386R
387 11.2
388 13.3
389 12.5
390 14.3
393 14.1
1684 12.5
1686 13.8
1687 10.9
1688 11.5
1689 6.7
1690 9.6 D1690N
1691 6.1
1692 7.8
1693 12.2
1698 14.4 A1698T
1699 11.8
1702 11.5
1703 13.2
1706 13.7