M394K Summary

SCN5A M394K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M394K is not present in gnomAD. M394K has been functionally characterized in 0 papers. Other variants at the same resdue are M394I .M394I .M394I .M394K .M394L .M394L .M394R .M394T .M394V . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

M394K 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 0.94

M394K has 59 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
264 11.3
267 13.4
268 14.6
271 14.5
272 14.7
365 13.5
368 10.8
369 12.9 M369K
371 12.1 Q371E
374 10.7
377 13.9
378 9.9
381 13.4
382 12.4
386 13.1 G386E G386R G386R
387 12.3
388 10.9
389 10.6
390 5.8
391 5.2
392 7.5
393 6.4
395 5.3
396 7.4
397 6.6 I397V
398 6
399 7.7
400 10 G400E G400R G400R
401 11
402 9.7 F402L F402L F402L
403 12.2
1654 14.7
1657 13.1
1658 11.7
1659 15
1660 13.1 I1660V
1661 9.8 G1661R G1661R
1662 12.3
1663 14.2
1664 10.1
1665 10.5
1666 14.9
1667 14.5 V1667I
1668 11
1698 13.5 A1698T
1700 14.3
1701 10.3 M1701I M1701I M1701I
1702 10.7
1703 13.6
1704 12.1
1705 6.9
1706 11.7
1707 13.8
1708 10.7
1709 11.2 T1709M
1711 14.5
1759 14.7
1764 13.7
1767 12.6 Y1767C