C982R Summary

SCN5A C982R was found in 4 papers (see below) with a total of 29 carriers: 0 had BrS1, 1 had LQT3, and 5 had other disease. C982R is present in 28 out of 272452 alleles in gnomAD (minor allele frequency of 0.010277%). C982R has been functionally characterized in 0 papers. Other variants at the same resdue are C982F .C982G .C982R .C982S .C982S .C982W .C982Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

C982R Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
1671270220060001Sudden adult death syndrome
2010286420100001SUD
2700052220170002SUDS
2674645720160011BBB, AV node disease
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

C982R 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 0.355 -0.54 probablydamaging 0.979 3.627 -0.14 -8 0.45

C982R 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
967 14.7
968 14.2
969 13.7 G969C
970 13.2
971 12.6 R971C R971H
972 12
973 11.4
974 10.7
975 10.1 R975Q R975W
976 9.3
977 8.5
978 7.6
979 6.6
980 5.4
981 3.8
983 3.8 G983D
984 5.4
985 6.6
986 7.6 R986L R986Q R986W
987 8.5
988 9.3 R988Q R988W
989 10.1
990 10.7
991 11.4
992 12
993 12.6 A993T
994 13.2
995 13.7 L995F
996 14.2
997 14.7 A997D A997S A997T