D1041N Summary
SCN5A D1041N was found in 2 papers (see below) with a total of 18 carriers: 1 had BrS1, 1 had LQT3, and 0 had other disease. D1041N is present in 16 out of 280188 alleles in gnomAD (minor allele frequency of 0.00571%). D1041N has been functionally characterized in 0 papers. Other variants at the same resdue are D1041A .D1041E .D1041E .D1041G .D1041H .D1041N .D1041V .D1041Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1041N Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
23631430 | 2013 | 0 | 0 | 1 | 0 | |
25650408 | 2015 | 0 | 1 | 0 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
D1041N 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 |
1 |
0.91 |
possiblydamaging |
0.83 |
3.316 |
2.39 |
2 |
0.305 |
D1041N 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 |
1026 |
14.7 |
|
1027 |
14.2 |
R1027Q |
1028 |
13.7 |
|
1029 |
13.2 |
|
1030 |
12.6 |
|
1031 |
12 |
|
1032 |
11.4 |
E1032K |
1033 |
10.7 |
Q1033R |
1034 |
10.1 |
|
1035 |
9.3 |
|
1036 |
8.5 |
|
1037 |
7.6 |
|
1038 |
6.6 |
|
1039 |
5.4 |
|
1040 |
3.8 |
G1040R G1040R |
1042 |
3.8 |
|
1043 |
5.4 |
|
1044 |
6.6 |
|
1045 |
7.6 |
V1045M |
1046 |
8.5 |
|
1047 |
9.3 |
|
1048 |
10.1 |
|
1049 |
10.7 |
|
1050 |
11.4 |
A1050T |
1051 |
12 |
|
1052 |
12.6 |
|
1053 |
13.2 |
E1053K |
1054 |
13.7 |
|
1055 |
14.2 |
|
1056 |
14.7 |
|