Y352S Summary

SCN5A Y352S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y352S is not present in gnomAD. Y352S has been functionally characterized in 0 papers. Other variants at the same resdue are Y352C .Y352D .Y352F .Y352H .Y352N .Y352S . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Y352S 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 0.901

Y352S 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
274 14
276 12.2 L276Q
277 11.7
322 14.2
344 15
345 12.5
346 9 E346K
347 7.2
348 8.9
349 8.5 D349N
350 6
351 3.7 G351S G351V
353 6.5 T353I
354 7.9
355 11.7 F355I
356 10.1 D356N
357 10.3
358 13.9
359 9.6
360 5.4
361 10.8
362 13.1
363 8.8
364 10.5
365 14.6
366 14.9
367 12 R367C R367H
376 13.8 R376H
377 13.1
380 14.1
871 13.6
872 14.7 D872N
899 13.2
900 10.2
901 12.4 E901K
902 12.8
903 9.1
904 5.7
905 10.4
906 11
907 6.8
908 8.3
909 11.7
910 12.1 S910L
911 9.7
912 7.1 Q912R
913 12.1
914 14.7
915 11.6
916 10.6
917 14.7
919 14.3
1550 14.6