H350R Summary

SCN5A H350R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H350R is not present in gnomAD. H350R has been functionally characterized in 0 papers. Other variants at the same resdue are H350D .H350L .H350N .H350P .H350Q .H350Q .H350R .H350Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

H350R 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
NA NA NA NA NA NA NA NA 0.917

H350R has 53 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
276 13.4 L276Q
277 13.7
279 14.9
321 13.6
322 10.6
323 13.5
324 14.6
325 14.9
345 13.3
346 9.7 E346K
347 8.1
348 7.5
349 4.6 D349N
351 5.5 G351S G351V
352 6
353 7.8 T353I
354 11.2
356 14.9 D356N
360 11
363 12.2
364 13
367 12.5 R367C R367H
372 14.1
373 13
376 10.7 R376H
377 12.8
380 12.6
865 13.9
868 14
870 12.6
871 9.2
872 9.4 D872N
873 13.3
874 13.7 G874D
877 12.8
878 14.8 R878C R878H
899 13.1
900 9
901 8.5 E901K
902 10.4
903 9.4
904 4.9
905 6.7
906 10.2
907 8.4
908 6.1
909 10.4
910 12.6 S910L
911 12
912 10.9 Q912R
915 12.8
916 13.5
919 14.6