C260Y Summary

SCN5A C260Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C260Y is not present in gnomAD. C260Y has been functionally characterized in 0 papers. Other variants at the same resdue are C260F .C260G .C260R .C260S .C260S .C260W .C260Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

C260Y 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 0.92

C260Y has 62 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
250 14.2
251 14
252 13.1
253 10.1
254 10
255 9
256 5.6
257 5.3
258 6.2
259 4.3
261 4.8
262 6.1
263 5.7 V263I
264 6.6
265 9.3
266 11.1
267 10.9
268 13.4
358 12.8
361 13.2
362 10.3
363 14.6
364 13.7
365 9.3
366 10.9
368 12.1
369 8.5 M369K
370 13.5 T370M
392 12.9
395 10.9
396 9.2
397 12.2 I397V
398 13.5
399 9.4
400 7.6 G400E G400R G400R
401 10.5
402 13.5 F402L F402L F402L
403 10.3
404 7.9
405 12.6
406 14.2 N406K N406K N406S
407 11.6
408 13.4
1539 13.6 C1539Y
1542 11.7
1546 13.4
1624 14.9 V1624I
1627 11.9
1628 12
1630 9.8
1631 10.1 G1631D
1632 14.5 R1632C R1632H
1633 10.6
1634 10.4
1636 15
1637 13.4
1643 11.8
1646 12.7
1647 11
1650 12.1
1651 14.5
1654 15