E1107K Summary
SCN5A E1107K was found in 2 papers (see below) with a total of 34 carriers: 0 had BrS1, 0 had LQT3, and 1 had other disease. E1107K is present in 33 out of 244554 alleles in gnomAD (minor allele frequency of 0.013494%). E1107K has been functionally characterized in 0 papers. Other variants at the same resdue are E1107A .E1107D .E1107D .E1107G .E1107K .E1107Q .E1107V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1107K Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
16453024 | 2006 | 0 | 0 | 0 | 1 | SIDS |
20129283 | 2010 | 1 | 0 | 0 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
E1107K 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 |
0.215 |
-0.74 |
possiblydamaging |
0.455 |
1.836 |
1.7 |
-4 |
0.544 |
E1107K 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.