C1004R Summary

SCN5A C1004R was found in 1 paper (see below) with a total of 71 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. C1004R is present in 70 out of 242328 alleles in gnomAD (minor allele frequency of 0.028886%). C1004R has been functionally characterized in 0 papers. Other variants at the same resdue are C1004F .C1004G .C1004R .C1004S .C1004S .C1004W .C1004Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1004R Reported Clinical Data

C1004R 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.

C1004R 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.