L395I Summary

SCN5A L395I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L395I is not present in gnomAD. L395I has been functionally characterized in 0 papers. Other variants at the same resdue are L395F .L395H .L395I .L395P .L395R .L395V . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L395I 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 0.624

L395I has 57 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
257 15
259 14
260 10.9
261 12.2
262 13.4
263 10.2 V263I
264 6.6
265 11.9
266 13.2
267 9
268 11.4
271 11.9
272 13.1
355 14.2 F355I
364 14.4
365 10.9
368 10.2
369 11.2 M369K
371 13.4 Q371E
374 13
377 14.6
378 12.9
381 14.3
382 14.7
386 14.8 G386E G386R G386R
388 12.3
389 10.8
390 9.4
391 6.2
392 5.6
393 7.5
394 5.3
396 5
397 7.4 I397V
398 7.3
399 5.2
400 8 G400E G400R G400R
401 10.5
402 10.8 F402L F402L F402L
403 10.7
404 13.1
1620 14.5 T1620K T1620M
1621 14
1624 10.9 V1624I
1625 14.1
1627 12.4
1628 11.7
1630 14.6
1631 14 G1631D
1654 13.4
1657 13.7
1658 12.1
1661 12.9 G1661R G1661R
1664 14.4
1705 11.9
1709 14.7 T1709M
1767 13.8 Y1767C