D1986N Summary
SCN5A D1986N was found in 0 papers (see below) with a total of 6 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1986N is present in 6 out of 260420 alleles in gnomAD (minor allele frequency of 0.002304%). D1986N has been functionally characterized in 0 papers. Other variants at the same resdue are D1986A .D1986E .D1986E .D1986G .D1986H .D1986N .D1986V .D1986Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1986N 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 |
0.004 |
-2.34 |
benign |
0.274 |
2.034 |
1.95 |
2 |
0.351 |
D1986N 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.