SCN5A R513H was found in 2 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 2 had other disease. R513H is present in 1 out of 230892 alleles in gnomAD (minor allele frequency of 0.000433%). R513H has been functionally characterized in 0 papers. Other variants at the same resdue are R513C .R513G .R513H .R513L .R513P .R513S .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
R513H Reported Clinical Data
|| Other disease
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
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.
R513H 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.