D1550A Summary

SCN5A D1550A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1550A is not present in gnomAD. D1550A has been functionally characterized in 0 papers. Other variants at the same resdue are D1550A .D1550E .D1550E .D1550G .D1550H .D1550N .D1550V .D1550Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1550A 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 0.907

D1550A has 47 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
265 14.9
266 14
268 12.2
269 9.2
270 10.5 Q270K
271 12.8
272 11.4
273 5.1
274 6.1
275 9.3
276 10.9 L276Q
277 7.2
278 11.4
279 13.9
342 13.4
343 7.2
344 10.2
345 10.7
346 11.9 E346K
347 11.5
348 14.5
351 13.2 G351S G351V
352 14.6
353 13.6 T353I
354 9.7
355 11 F355I
356 5.7 D356N
357 8.6
358 13
359 13.3
360 12.7
361 12.7
384 14.9
1545 14
1546 14.2
1547 11.6
1548 8.5 E1548K G1548K
1549 5
1551 3.9 D1551N
1552 7.2
1553 10.1
1554 12.3
1555 14.9
1556 12.3
1557 11.5
1560 14 L1560F L1560F
1623 14.4 R1623L R1623Q