A647V Summary
SCN5A A647V was found in 0 papers (see below) with a total of 3 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A647V is present in 3 out of 247954 alleles in gnomAD (minor allele frequency of 0.00121%). A647V has been functionally characterized in 0 papers. Other variants at the same resdue are A647D .A647G .A647P .A647S .A647T .A647V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A647V 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 |
0.514 |
-0.55 |
benign |
0 |
3.489 |
-0.95 |
-2 |
0.44 |
A647V 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 |
632 |
14.7 |
T632M |
633 |
14.2 |
|
634 |
13.7 |
S634L |
635 |
13.2 |
|
636 |
12.6 |
|
637 |
12 |
|
638 |
11.4 |
|
639 |
10.7 |
G639R G639R |
640 |
10.1 |
P640A |
641 |
9.3 |
|
642 |
8.5 |
|
643 |
7.6 |
|
644 |
6.6 |
|
645 |
5.4 |
|
646 |
3.8 |
|
648 |
3.8 |
P648L |
649 |
5.4 |
C649Y |
650 |
6.6 |
|
651 |
7.6 |
|
652 |
8.5 |
|
653 |
9.3 |
|
654 |
10.1 |
E654K |
655 |
10.7 |
E655K |
656 |
11.4 |
P656L |
657 |
12 |
|
658 |
12.6 |
|
659 |
13.2 |
R659Q R659W |
660 |
13.7 |
|
661 |
14.2 |
R661W |
662 |
14.7 |
A662S |