D1471V Summary
SCN5A D1471V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1471V is not present in gnomAD. D1471V has been functionally characterized in 0 papers. Other variants at the same resdue are D1471A .D1471E .D1471E .D1471G .D1471H .D1471N .D1471V .D1471Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
D1471V 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 |
0.971 |
D1471V has 60 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 |
| 409 |
14.1 |
L409V |
| 410 |
14.5 |
|
| 413 |
13 |
A413T |
| 417 |
13.3 |
|
| 831 |
14.3 |
|
| 935 |
12.1 |
|
| 936 |
11.7 |
|
| 937 |
13.5 |
|
| 938 |
10.7 |
|
| 939 |
7.1 |
|
| 940 |
10.3 |
|
| 941 |
11 |
S941N |
| 942 |
9.4 |
|
| 943 |
6.6 |
|
| 944 |
7.8 |
|
| 1322 |
14.2 |
|
| 1323 |
14.6 |
|
| 1325 |
14.4 |
N1325S |
| 1326 |
10.7 |
|
| 1327 |
13.8 |
|
| 1328 |
14.8 |
|
| 1329 |
11.5 |
G1329S |
| 1330 |
10.2 |
A1330T |
| 1331 |
14.2 |
|
| 1332 |
13.3 |
P1332L |
| 1333 |
10.3 |
|
| 1334 |
12.3 |
I1334V |
| 1336 |
14.3 |
|
| 1337 |
13.3 |
|
| 1463 |
13.4 |
|
| 1464 |
10.8 |
|
| 1465 |
11.8 |
|
| 1466 |
8.7 |
|
| 1467 |
5.7 |
|
| 1468 |
5.5 |
|
| 1469 |
6.8 |
|
| 1470 |
4.5 |
|
| 1472 |
4.9 |
p.N1472del |
| 1473 |
7.7 |
F1473C |
| 1474 |
5.9 |
|
| 1475 |
7.8 |
|
| 1476 |
10.5 |
Q1476R |
| 1477 |
10.8 |
|
| 1478 |
10.7 |
|
| 1479 |
12.5 |
|
| 1484 |
13.5 |
|
| 1487 |
12.9 |
M1487L M1487L |
| 1489 |
13.8 |
E1489D E1489D |
| 1762 |
13.7 |
I1762M |
| 1765 |
12.1 |
|
| 1766 |
11.8 |
M1766T M1766V |
| 1768 |
12 |
I1768V |
| 1769 |
9.1 |
|
| 1770 |
12.3 |
|
| 1771 |
14.1 |
|
| 1772 |
10.6 |
|
| 1773 |
8.7 |
|
| 1774 |
13.9 |
|
| 1776 |
12.6 |
|
| 1777 |
14.5 |
V1777M |