A29V Summary

SCN5A A29V was found in 1 paper (see below) with a total of 28 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. A29V is present in 27 out of 280148 alleles in gnomAD (minor allele frequency of 0.009638%). A29V has been functionally characterized in 0 papers. Other variants at the same resdue are A29E .A29G .A29P .A29S .A29T .A29V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A29V Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2309806720120010
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A29V 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
Damaging 0.02 -3.45 probablydamaging 0.997 1.133 -1.43 -2 0.562

A29V 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
14 14.7 R14C R14H
15 14.2 R15G R15M R15T
16 13.7
17 13.2
18 12.6 R18Q R18W
19 12
20 11.4
21 10.7
22 10.1 A22V
23 9.3
24 8.5
25 7.6 E25K
26 6.6
27 5.4 R27C R27H R27L
28 3.8 M28I M28I M28I M28L M28L
30 3.8
31 5.4
32 6.6
33 7.6
34 8.5 R34C R34H
35 9.3 G35S
36 10.1
37 10.7 T37A
38 11.4
39 12
40 12.6
41 13.2
42 13.7
43 14.2 R43Q
44 14.7