Y416N Summary

SCN5A Y416N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y416N is not present in gnomAD. Y416N has been functionally characterized in 0 papers. Other variants at the same resdue are Y416C .Y416D .Y416F .Y416H .Y416N .Y416S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Y416N 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 0.952

Y416N has 63 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
235 11.9
236 12.5
237 12
238 6.8
239 7.2 I239V I239V
240 10.6 V240M
241 8.9
242 6.4
243 9.4
244 11.9
245 10.5 Q245K
246 9.4
247 13.5 V247L V247L
249 12.4
250 14.8
408 13.9
409 11 L409V
410 11.1
411 10.6 V411M
412 7.3
413 6.1 A413T
414 8.8
415 5.8
417 5.3
418 7.9
419 6.4
420 5.2
421 9.2
422 10.3
423 10.2
835 12.6 S835A
837 12.9
838 9.7
839 11.8 L839P
840 13.4
841 11.8 N841K N841K
842 9.7
843 14
845 13.4
846 14.9
928 15
929 11.2
930 10.8
931 12.8
932 10.6
933 6.1
934 10
935 9.9
936 5.4
937 6.5
938 10
939 8.8
940 7
941 10 S941N
942 12.9
943 13.1
1463 15
1467 14
1470 14.5
1772 13.5
1775 14.5
1776 13.8
1779 14.9 T1779M