A29V Summary
SCN5A A29V was found in 1 paper (see below) with a total of 28 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. A29V is present in 27 out of 280148 alleles in gnomAD (minor allele frequency of 0.009638%). A29V has been functionally characterized in 0 papers. Other variants at the same resdue are A29E .A29G .A29P .A29S .A29T .A29V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A29V Reported Clinical Data
| PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
| 23098067 | 2012 | 0 | 0 | 1 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A29V 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 |
0.02 |
-3.45 |
probablydamaging |
0.997 |
1.133 |
-1.43 |
-2 |
0.562 |
A29V 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.