L342Q Summary

SCN5A L342Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L342Q is not present in gnomAD. L342Q has been functionally characterized in 0 papers. Other variants at the same resdue are L342I .L342P .L342Q .L342R .L342V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L342Q 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 0.858

L342Q has 45 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
273 15
274 10.7
275 10.9
276 12.3 L276Q
277 9.4
278 6.4
279 6.3
280 7.2
281 5.4 V281M
282 11.4 R282C R282H
283 9.5
284 14.1
317 11
318 13.9
319 11.5 G319S
320 9.6 T320N
321 11.5
322 13.9
323 10.7
324 12.9
325 10.5
326 9.4
327 9.1
328 10.4
329 14.3
332 14.7 A332T
333 14.8
334 13
335 11 C335R
336 12.5 P336L
338 11.5
339 10.5
340 5.9 R340Q R340W
341 4.3 C341Y
343 6.2
344 5.9
345 9.1
346 12.7 E346K
347 13.4
348 14.2
383 14
384 11.2
385 13.9 A385T
1550 13.4
1551 13.8 D1551N