P348A Summary

SCN5A P348A was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. P348A is present in 1 out of 248944 alleles in gnomAD (minor allele frequency of 0.000402%). P348A has been functionally characterized in 0 papers. Other variants at the same resdue are P348A .P348H .P348L .P348R .P348S .P348T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P348A 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 -7.85 possiblydamaging 0.953 0.1727 -3.6 -2 0.96

P348A has 60 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
272 12.9
273 14.8
274 10.7
275 11.6
276 6.8 L276Q
277 8.1
278 10.6
279 8.5
280 12.4
281 14.8 V281M
320 13.6 T320N
321 10.5
322 8
323 8.1
324 8.8
325 7.7
326 12.6
327 14.1
341 14.6 C341Y
342 14.2
343 12.8
344 10.5
345 9.3
346 7.5 E346K
347 3.7
349 4.3 D349N
350 7.5
351 5.8 G351S G351V
352 8.9
353 5.1 T353I
354 7.5
355 11.2 F355I
356 11.8 D356N
357 14.4
360 11.7
361 13.5
363 13.4
364 12
367 12.6 R367C R367H
373 13.4
375 13.4
376 8.4 R376H
377 9.3
378 14.3
379 11.8
380 6.6
381 10.5
382 13.8
383 11.5
384 11.1
385 14.2 A385T
872 13.5 D872N
900 12.4
901 13.1 E901K
903 14.6
904 10
905 13.8
907 14.5
908 13.3
1550 14.5