T334A Summary

SCN5A T334A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T334A is not present in gnomAD. T334A has been functionally characterized in 0 papers. Other variants at the same resdue are T334A .T334I .T334K .T334P .T334R .T334S . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T334A 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 0.28

T334A has 43 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
275 14.3
276 14.8 L276Q
278 11.1
279 12.7
280 8.7
281 12.9 V281M
323 12.7
324 10.4
325 9.3
326 4.8
327 5.4
328 7.5
329 7.8
330 9.2
331 8.4
332 5.4 A332T
333 3.2
335 4.1 C335R
336 6.9 P336L
337 11.1
338 11.8
339 10.3
340 12.3 R340Q R340W
341 9.1 C341Y
342 13
379 13.4
380 13.3
381 13.1
382 11.2
383 7
384 9
385 10.5 A385T
386 10.7 G386E G386R G386R
387 12.3
388 14.8
1684 13.5
1688 14.6
1689 9.9
1690 9.2 D1690N
1691 8.3
1692 11.9
1693 13.5
1699 13.4