A385T Summary

SCN5A A385T was found in 1 paper (see below) with a total of 7 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. A385T is present in 6 out of 280344 alleles in gnomAD (minor allele frequency of 0.00214%). A385T has been functionally characterized in 0 papers. Other variants at the same resdue are A385E .A385G .A385P .A385S .A385T .A385V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A385T Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2787184320170010
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A385T 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
Damaging 0.001 -2.96 probablydamaging 0.997 1.096 1.63 -1 0.784

A385T has 58 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
267 14.3
268 12
269 14.6
270 14.1 Q270K
271 9.3
272 7.5
273 12.7
274 10.1
275 6.6
276 8.5 L276Q
277 12.7
278 8.1
279 13.3
280 13.6
324 13.5
325 9
326 9.5
327 7
328 7.4
329 5.9
330 8.8
331 9.8
332 6.1 A332T
333 8.9
334 10.5
335 13.2 C335R
341 10.8 C341Y
342 13.9
343 13
348 14.2
353 14.6 T353I
354 13.4
355 12 F355I
377 12.1
378 10.5
379 11.5
380 10
381 5.8
382 5.8
383 8.4
384 3.8
386 3.5 G386E G386R G386R
387 8.4
388 7.3
389 5.6
390 11
391 12.1
392 11.2
393 11.3
1619 14.7
1620 11.9 T1620K T1620M
1621 15
1689 14.2
1691 10.9
1692 12.6
1698 14.4 A1698T
1699 14
1702 12.5