K387M Summary

SCN5A K387M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K387M is not present in gnomAD. K387M has been functionally characterized in 0 papers. Other variants at the same resdue are K387E .K387M .K387N .K387N .K387Q .K387R .K387T . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K387M 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 0.959

K387M has 52 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
271 14.5
272 14
275 14.8
325 14.8
326 14.2
327 12.4
328 12.3
329 8.2
330 6.6
331 5.4
332 7.3 A332T
333 9.7
334 12.3
378 9.8
379 12.1
380 14.3
381 10.4
382 6.7
383 11.2
384 10.9
385 8.4 A385T
386 5.1 G386E G386R G386R
388 4.6
389 7.7
390 6.5
391 9.5
392 12.7
393 11.5
394 12.3
1223 14.7
1224 14.1
1228 14 Y1228C Y1228H
1668 14.4
1672 14.9 S1672Y
1689 13.4
1690 13.8 D1690N
1691 8.4
1692 9.7
1693 11.7
1694 14.4
1695 13.8
1696 10.1
1697 9.4
1698 6.5 A1698T
1699 7.6
1700 10.8
1701 9.5 M1701I M1701I M1701I
1702 7
1703 11.6
1704 13.6
1705 11.2
1706 13.6