M390R Summary

SCN5A M390R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M390R is not present in gnomAD. M390R has been functionally characterized in 0 papers. Other variants at the same resdue are M390I .M390I .M390I .M390K .M390L .M390L .M390R .M390T .M390V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M390R 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 0.982

M390R 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 14.4
267 14.5
268 14.7
271 13.2
272 13
329 13.5
330 12.8
331 11.9
332 12.6 A332T
333 14.8
368 13.2
374 11.5
375 14.3
377 13.1
378 7.6
379 12.1
380 14.6
381 10.3
382 7.9
383 14.3
384 13.6
385 11 A385T
386 8 G386E G386R G386R
387 6.5
388 6
389 7.1
391 4.5
392 8.2
393 6.7
394 5.8
395 9.4
396 11.2
397 11 I397V
398 11.7
399 13.2
402 15 F402L F402L F402L
1661 13.8 G1661R G1661R
1664 13.2
1665 11.3
1668 11
1669 14.7
1672 14.5 S1672Y
1691 12.4
1692 11.5
1693 14.6
1696 13.6
1697 11.5
1698 8.8 A1698T
1699 10.5
1700 11.1
1701 7.7 M1701I M1701I M1701I
1702 6.6
1703 10.9
1704 11.1
1705 6.6
1706 10.8
1707 13.8
1708 12.6
1709 13.6 T1709M