L382R Summary

SCN5A L382R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L382R is not present in gnomAD. L382R has been functionally characterized in 0 papers. Other variants at the same resdue are L382F .L382H .L382I .L382P .L382R .L382V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L382R 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 0.99

L382R has 67 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
268 13.7
271 12.4
272 10.1
274 13.9
275 10.9
276 10 L276Q
278 11.9
324 12.4
325 9.3
326 10.8
327 10
328 11.8
329 9.3
330 10.4
331 9.2
332 6.8 A332T
333 8.4
334 11.2
335 14.7 C335R
341 14.7 C341Y
348 13.8
353 14.1 T353I
354 14.4
355 13 F355I
368 13.6
374 11.1
375 11.1
376 11.7 R376H
377 9.2
378 5.3
379 6.5
380 7.7
381 4.3
383 6.6
384 6.6
385 5.8 A385T
386 3.8 G386E G386R G386R
387 6.7
388 7.8
389 6.8
390 7.9
391 10.9
392 10.4
393 8.3
394 12.4
395 14.7
396 14.4
397 14.6 I397V
1687 13
1688 13.7
1689 10.4
1690 13.1 D1690N
1691 7.2
1692 7.4
1693 12.4
1696 14.1
1697 14.6
1698 10.8 A1698T
1699 9.8
1700 12.9
1701 12.2 M1701I M1701I M1701I
1702 7.3
1703 10.8
1704 13.9
1705 10.9
1706 10.6
1711 14.6