D2003N Summary
SCN5A D2003N was found in 1 paper (see below) with a total of 4 carriers: 0 had BrS1, 0 had LQT3, and 1 had other disease. D2003N is present in 4 out of 194518 alleles in gnomAD (minor allele frequency of 0.002056%). D2003N has been functionally characterized in 0 papers. Other variants at the same resdue are D2003A .D2003E .D2003E .D2003G .D2003H .D2003N .D2003V .D2003Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D2003N Reported Clinical Data
| PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
| 26164358 | 2015 | 0 | 0 | 0 | 1 | SUDS |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
D2003N 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 |
0.006 |
-1.18 |
probablydamaging |
0.966 |
2.484 |
1.36 |
2 |
0.381 |
D2003N has 28 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.