D953G Summary
SCN5A D953G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D953G is not present in gnomAD. D953G has been functionally characterized in 0 papers. Other variants at the same resdue are D953A .D953E .D953E .D953G .D953H .D953N .D953V .D953Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D953G 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 |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
0.86 |
D953G 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.
ResidueNumber |
Distance(Å) |
Variants |
938 |
14.7 |
|
939 |
14.2 |
|
940 |
13.7 |
|
941 |
13.2 |
S941N |
942 |
12.6 |
|
943 |
12 |
|
944 |
11.4 |
|
945 |
10.7 |
D945G |
946 |
10.1 |
|
947 |
9.3 |
|
948 |
8.5 |
|
949 |
7.6 |
|
950 |
6.6 |
|
951 |
5.4 |
|
952 |
3.8 |
|
954 |
3.8 |
|
955 |
5.4 |
|
956 |
6.6 |
|
957 |
7.6 |
|
958 |
8.5 |
|
959 |
9.3 |
L959P |
960 |
10.1 |
|
961 |
10.7 |
|
962 |
11.4 |
|
963 |
12 |
|
964 |
12.6 |
|
965 |
13.2 |
R965C R965H |
966 |
13.7 |
|
967 |
14.2 |
|
968 |
14.7 |
|