A1100V Summary
SCN5A A1100V was found in 2 papers (see below) with a total of 16 carriers: 0 had BrS1, 1 had LQT3, and 1 had other disease. A1100V is present in 15 out of 277630 alleles in gnomAD (minor allele frequency of 0.005403%). A1100V has been functionally characterized in 0 papers. Other variants at the same resdue are A1100E .A1100G .A1100P .A1100S .A1100T .A1100V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1100V Reported Clinical Data
| PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
| 24631775 | 2014 | 0 | 0 | 0 | 1 | SIDS |
| 19716085 | 2009 | 0 | 0 | 1 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A1100V 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 |
0.151 |
-0.41 |
benign |
0.05 |
3.555 |
-1.25 |
-2 |
0.621 |
A1100V 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.