D1551E Summary

SCN5A D1551E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1551E is not present in gnomAD. D1551E has been functionally characterized in 0 papers. Other variants at the same resdue are D1551A .D1551E .D1551E .D1551G .D1551H .D1551N .D1551V .D1551Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1551E 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 0.618

D1551E has 31 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
269 12.2
270 12.5 Q270K
272 14.6
273 7.8
274 9.1
275 11.9
276 14.3 L276Q
277 10
278 13.3
342 13.8
343 8.1
344 11.4
345 12.3
346 14.2 E346K
347 14.7
354 13.6
355 14.7 F355I
356 9.4 D356N
357 11.8
1547 12.4
1548 9.4 E1548K G1548K
1549 6.6
1550 3.9
1552 6
1553 7.3
1554 9
1555 12.1
1556 10.6
1557 9.1
1558 13.3
1560 13 L1560F L1560F