D372N Summary

SCN5A D372N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D372N is not present in gnomAD. D372N has been functionally characterized in 0 papers. Other variants at the same resdue are D372A .D372E .D372E .D372G .D372H .D372N .D372V .D372Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D372N 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 0.942

D372N has 71 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
261 14.7
349 13.1 D349N
350 14.1
353 12.3 T353I
355 14.9 F355I
361 14.3
362 13.8
363 10.1
364 9.2
365 10.9
366 8.6
367 4.5 R367C R367H
368 7.8
369 10 M369K
370 5.6 T370M
371 6.5 Q371E
373 3.8
374 7.5
375 9.2
376 9.8 R376H
377 9.1
378 12.9
379 13.7
380 13.7
393 13
396 13
397 11.4 I397V
400 14.3 G400E G400R G400R
401 11.4
402 14.1 F402L F402L F402L
405 13
890 14.1 I890T
891 14.4
892 14.7 F892I
893 9.4 R893C R893H
894 9.5
895 12.4
896 10.6
897 6.1
898 6
899 5.2
900 5.8
901 9.1 E901K
902 10.5
903 10
904 10.6
905 14
907 14.7
916 13.6
919 11.9
920 11.6
922 13
923 9.3
924 14 V924I
926 14.7
927 11.7 N927S
928 13.1
1417 13.2
1418 10.9
1419 9.8
1420 13.2 G1420R G1420V
1421 12.4
1422 12.9
1706 12.3
1708 14.8
1709 10.6 T1709M
1710 10.7 S1710L
1711 9.6
1712 11.8 G1712S
1713 14.1
1760 14.9