P336T Summary

SCN5A P336T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P336T is not present in gnomAD. P336T has been functionally characterized in 0 papers. Other variants at the same resdue are P336A .P336L .P336Q .P336R .P336S .P336T . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P336T 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 0.899

P336T has 31 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 13.7
279 12.4
280 7
281 9.7 V281M
282 9.1 R282C R282H
283 11.2
284 12.8
285 14.6
323 11.6
324 10.7
325 11.9
326 7.5
327 9.8
328 12.1
329 14
332 12.2 A332T
333 9.6
334 6.9
335 3.7 C335R
337 5.9
338 6.2
339 4.4
340 9.9 R340Q R340W
341 10.1 C341Y
342 12.5
383 11.4
384 13.8
1684 14.2
1689 12.9
1690 11.9 D1690N
1691 13.7