Y339H Summary

SCN5A Y339H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y339H is not present in gnomAD. Y339H has been functionally characterized in 0 papers. Other variants at the same resdue are Y339C .Y339D .Y339F .Y339H .Y339N .Y339S . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

Y339H 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 0.862

Y339H 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
278 13.5
279 10.9
280 6
281 6.4 V281M
282 4.9 R282C R282H
283 7.2
284 8.8
285 10.6
286 12.1 A286S A286V
319 11.8 G319S
320 11.9 T320N
321 12.6
322 14.3
323 10.7
324 11.5
325 12.7
326 9.1
327 11.4
328 13.6
333 13.1
334 10.3
335 6.5 C335R
336 4.4 P336L
337 6.7
338 3.7
340 7.5 R340Q R340W
341 9.6 C341Y
342 10.5
344 14.3
383 13.8