A997D Summary
SCN5A A997D was found in 1 paper (see below) with a total of 10 carriers: 0 had BrS1, 0 had LQT3, and 1 had other disease. A997D is present in 10 out of 240014 alleles in gnomAD (minor allele frequency of 0.004166%). A997D has been functionally characterized in 0 papers. Other variants at the same resdue are A997D .A997G .A997P .A997S .A997T .A997V .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A997D Reported Clinical Data
| PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
| 24631775 | 2014 | 0 | 0 | 0 | 1 | SIDS |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A997D 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 |
| Tolerated |
0.387 |
-0.12 |
benign |
0.029 |
3.271 |
-0.29 |
-3 |
0.744 |
A997D 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.