E1548D Summary

SCN5A E1548D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1548D is not present in gnomAD. E1548D has been functionally characterized in 0 papers. Other variants at the same resdue are E1548A .E1548D .E1548D .E1548G .E1548K .E1548Q .E1548V .G1548K . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1548D 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 0.773

E1548D has 54 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
262 14
263 14.5 V263I
265 11.8
266 8.8
267 12.1
268 10.9
269 6.9
270 6.6 Q270K
271 11.8
272 12.9
273 7.1
274 12.1
275 13.9
277 14.8
354 13.8
355 12.3 F355I
356 9.3 D356N
357 9
358 9.6
359 12.6
360 14.7
361 12.3
1540 13.7
1541 11
1542 11.1
1543 9.7 V1543A V1543L V1543L
1544 7.2
1545 6.2
1546 7.5
1547 4.7
1549 5.1
1550 8.5
1551 9.4 D1551N
1552 8.4
1553 10
1554 11.9
1555 12.9
1556 8.3
1557 8.4
1558 12.1
1559 10.9 I1559V
1560 7 L1560F L1560F
1561 10.9
1562 14
1563 11.2
1564 10.8
1567 14.3
1619 12.9
1620 14 T1620K T1620M
1622 13.9
1623 9.8 R1623L R1623Q
1624 14.5 V1624I
1626 12.1 R1626C R1626H R1626P
1627 12.6