Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23489 | 70690;70691;70692 | chr2:178575667;178575666;178575665 | chr2:179440394;179440393;179440392 |
| N2AB | 21848 | 65767;65768;65769 | chr2:178575667;178575666;178575665 | chr2:179440394;179440393;179440392 |
| N2A | 20921 | 62986;62987;62988 | chr2:178575667;178575666;178575665 | chr2:179440394;179440393;179440392 |
| N2B | 14424 | 43495;43496;43497 | chr2:178575667;178575666;178575665 | chr2:179440394;179440393;179440392 |
| Novex-1 | 14549 | 43870;43871;43872 | chr2:178575667;178575666;178575665 | chr2:179440394;179440393;179440392 |
| Novex-2 | 14616 | 44071;44072;44073 | chr2:178575667;178575666;178575665 | chr2:179440394;179440393;179440392 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 0.991 | N | 0.584 | 0.429 | 0.78313215989 | gnomAD-4.0.0 | 3.42146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49777E-06 | 0 | 0 |
| C/S | rs1471554561  |
-2.219 | 0.962 | N | 0.554 | 0.353 | 0.601175442443 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7395 | likely_pathogenic | 0.7496 | pathogenic | -1.932 | Destabilizing | 0.872 | D | 0.443 | neutral | None | None | None | None | N |
| C/D | 0.9795 | likely_pathogenic | 0.9815 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| C/E | 0.9857 | likely_pathogenic | 0.9876 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | N |
| C/F | 0.6756 | likely_pathogenic | 0.7278 | pathogenic | -1.24 | Destabilizing | 0.991 | D | 0.584 | neutral | N | 0.508538346 | None | None | N |
| C/G | 0.6198 | likely_pathogenic | 0.6352 | pathogenic | -2.287 | Highly Destabilizing | 0.948 | D | 0.593 | neutral | N | 0.462246843 | None | None | N |
| C/H | 0.9491 | likely_pathogenic | 0.9541 | pathogenic | -2.441 | Highly Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| C/I | 0.579 | likely_pathogenic | 0.6161 | pathogenic | -0.978 | Destabilizing | 0.967 | D | 0.543 | neutral | None | None | None | None | N |
| C/K | 0.9935 | likely_pathogenic | 0.9949 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| C/L | 0.6798 | likely_pathogenic | 0.6997 | pathogenic | -0.978 | Destabilizing | 0.166 | N | 0.303 | neutral | None | None | None | None | N |
| C/M | 0.8061 | likely_pathogenic | 0.823 | pathogenic | 0.18 | Stabilizing | 0.998 | D | 0.572 | neutral | None | None | None | None | N |
| C/N | 0.8631 | likely_pathogenic | 0.8603 | pathogenic | -1.641 | Destabilizing | 1.0 | D | 0.594 | neutral | None | None | None | None | N |
| C/P | 0.975 | likely_pathogenic | 0.9783 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| C/Q | 0.9651 | likely_pathogenic | 0.9707 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| C/R | 0.9682 | likely_pathogenic | 0.9746 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.507988006 | None | None | N |
| C/S | 0.6335 | likely_pathogenic | 0.6568 | pathogenic | -2.057 | Highly Destabilizing | 0.962 | D | 0.554 | neutral | N | 0.4668192 | None | None | N |
| C/T | 0.7351 | likely_pathogenic | 0.7607 | pathogenic | -1.675 | Destabilizing | 0.94 | D | 0.543 | neutral | None | None | None | None | N |
| C/V | 0.4995 | ambiguous | 0.5264 | ambiguous | -1.273 | Destabilizing | 0.82 | D | 0.531 | neutral | None | None | None | None | N |
| C/W | 0.9028 | likely_pathogenic | 0.9236 | pathogenic | -1.476 | Destabilizing | 0.055 | N | 0.351 | neutral | N | 0.508195951 | None | None | N |
| C/Y | 0.8207 | likely_pathogenic | 0.8453 | pathogenic | -1.377 | Destabilizing | 0.978 | D | 0.577 | neutral | N | 0.490345186 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.