A359T Summary

SCN5A A359T was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A359T is present in 1 out of 249060 alleles in gnomAD (minor allele frequency of 0.000402%). A359T has been functionally characterized in 0 papers. Other variants at the same resdue are A359D .A359G .A359P .A359S .A359T .A359V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A359T 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 0.018 -1.53 possiblydamaging 0.891 1.782 -3.05 -1 0.58

A359T has 55 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
258 12.7
261 11.1
262 10.9
263 13.7 V263I
264 14
265 8.6
266 11
267 13.8
268 11.2
269 9.3
270 13.5 Q270K
272 14
273 12.6
274 14.3
276 14.4 L276Q
277 14.7
347 13.5
351 11.9 G351S G351V
352 9.6
353 10.9 T353I
354 9.1
355 9.2 F355I
356 8.1 D356N
357 4.7
358 4.8
360 4.3
361 5.2
362 5.9
363 6.7
364 8.8
365 10.1
366 11.4
367 12.8 R367C R367H
368 14.4
899 14.8
900 14.2
903 12.9
904 12.5
907 12.1
911 14.2
912 10.4 Q912R
913 13.5
915 14.6
916 10.3
917 12.8
920 13.3
1542 15
1543 13.9 V1543A V1543L V1543L
1545 14.4
1546 9.7
1547 11.6
1548 12.6 E1548K G1548K
1549 10.8
1550 13.3
1552 14.7