D536H Summary
SCN5A D536H was found in 1 paper (see below) with a total of 2 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. D536H is present in 1 out of 248210 alleles in gnomAD (minor allele frequency of 0.000403%). D536H has been functionally characterized in 0 papers. Other variants at the same resdue are D536A .D536E .D536E .D536G .D536H .D536N .D536V .D536Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D536H Reported Clinical Data
| PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
| 27471188 | 2016 | 0 | 0 | 1 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
D536H 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 |
0.001 |
-5.13 |
probablydamaging |
0.998 |
1.874 |
-1.53 |
-4 |
0.676 |
D536H 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.