A505E Summary
SCN5A A505E was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A505E is present in 1 out of 248522 alleles in gnomAD (minor allele frequency of 0.000402%). A505E has been functionally characterized in 0 papers. Other variants at the same resdue are A505E .A505G .A505P .A505S .A505T .A505V .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A505E 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 |
Damaging |
0.021 |
0.4 |
possiblydamaging |
0.458 |
3.495 |
-0.78 |
-2 |
0.527 |
A505E has 30 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 |
490 |
14.7 |
|
491 |
14.2 |
|
492 |
13.7 |
|
493 |
13.2 |
R493K |
494 |
12.6 |
|
495 |
12 |
|
496 |
11.4 |
|
497 |
10.7 |
|
498 |
10.1 |
|
499 |
9.3 |
|
500 |
8.5 |
|
501 |
7.6 |
|
502 |
6.6 |
|
503 |
5.4 |
|
504 |
3.8 |
R504T |
506 |
3.8 |
M506K |
507 |
5.4 |
|
508 |
6.6 |
|
509 |
7.6 |
|
510 |
8.5 |
|
511 |
9.3 |
|
512 |
10.1 |
T512I |
513 |
10.7 |
R513C |
514 |
11.4 |
G514C |
515 |
12 |
|
516 |
12.6 |
|
517 |
13.2 |
|
518 |
13.7 |
|
519 |
14.2 |
|
520 |
14.7 |
M520V |