D1741Y Summary
SCN5A D1741Y was found in 2 papers (see below) with a total of 1 carrier: 1 had BrS1, 0 had LQT3, and 1 had other disease. D1741Y is not present in gnomAD. D1741Y has been functionally characterized in 0 papers. Other variants at the same resdue are D1741A .D1741E .D1741E .D1741G .D1741H .D1741N .D1741V .D1741Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1741Y Reported Clinical Data
| PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
| 22885917 | 2012 | 0 | 1 | 0 | 0 | |
| 23683917 | 2013 | 0 | 0 | 0 | 1 | SUD |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
D1741Y 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 |
-6.66 |
probablydamaging |
0.981 |
1.01 |
-1.09 |
-11 |
0.595 |
D1741Y has 41 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.