R34H Summary

SCN5A R34H was found in 2 papers (see below) with a total of 13 carriers: 0 had BrS1, 0 had LQT3, and 1 had other disease. R34H is present in 11 out of 248636 alleles in gnomAD (minor allele frequency of 0.004424%). R34H has been functionally characterized in 0 papers. Other variants at the same resdue are R34C .R34G .R34H .R34L .R34P .R34S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R34H Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2801802120161001AVB
2012928320101000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

R34H 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 0.046 -2.16 possiblydamaging 0.72 2.393 -3.22 -2 0.456

R34H 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
19 14.7
20 14.2
21 13.7
22 13.2 A22V
23 12.6
24 12
25 11.4 E25K
26 10.7
27 10.1 R27C R27H R27L
28 9.3 M28I M28I M28I M28L M28L
29 8.5 A29V
30 7.6
31 6.6
32 5.4
33 3.8
35 3.8 G35S
36 5.4
37 6.6 T37A
38 7.6
39 8.5
40 9.3
41 10.1
42 10.7
43 11.4 R43Q
44 12
45 12.6
46 13.2
47 13.7
48 14.2 E48K
49 14.7