Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20446 | 61561;61562;61563 | chr2:178590389;178590388;178590387 | chr2:179455116;179455115;179455114 |
| N2AB | 18805 | 56638;56639;56640 | chr2:178590389;178590388;178590387 | chr2:179455116;179455115;179455114 |
| N2A | 17878 | 53857;53858;53859 | chr2:178590389;178590388;178590387 | chr2:179455116;179455115;179455114 |
| N2B | 11381 | 34366;34367;34368 | chr2:178590389;178590388;178590387 | chr2:179455116;179455115;179455114 |
| Novex-1 | 11506 | 34741;34742;34743 | chr2:178590389;178590388;178590387 | chr2:179455116;179455115;179455114 |
| Novex-2 | 11573 | 34942;34943;34944 | chr2:178590389;178590388;178590387 | chr2:179455116;179455115;179455114 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1470445238  |
-1.474 | 1.0 | D | 0.795 | 0.496 | 0.483670899158 | gnomAD-2.1.1 | 1.28E-05 | None | None | None | None | N | None | 0 | 3.09E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.86E-05 | 0 |
| R/C | rs1470445238 |
-1.474 | 1.0 | D | 0.795 | 0.496 | 0.483670899158 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs1470445238 |
-1.474 | 1.0 | D | 0.795 | 0.496 | 0.483670899158 | gnomAD-4.0.0 | 4.32067E-05 | None | None | None | None | N | None | 1.3468E-05 | 1.72111E-05 | None | 0 | 0 | None | 0 | 0 | 4.94684E-05 | 0 | 1.45867E-04 |
| R/H | rs368278158 |
-2.1 | 1.0 | N | 0.797 | 0.546 | None | gnomAD-2.1.1 | 4.91E-05 | None | None | None | None | N | None | 8.34E-05 | 3.01E-05 | None | 0 | 1.04888E-04 | None | 7.66E-05 | None | 0 | 4.08E-05 | 1.48987E-04 |
| R/H | rs368278158 |
-2.1 | 1.0 | N | 0.797 | 0.546 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 1.68911E-04 | 1.31096E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07297E-04 | 4.78927E-04 |
| R/H | rs368278158 |
-2.1 | 1.0 | N | 0.797 | 0.546 | None | gnomAD-4.0.0 | 3.32067E-05 | None | None | None | None | N | None | 9.42101E-05 | 1.37879E-04 | None | 0 | 2.24175E-05 | None | 0 | 0 | 2.55978E-05 | 4.59939E-05 | 4.86444E-05 |
| R/L | rs368278158 |
None | 1.0 | N | 0.707 | 0.556 | 0.460795861206 | gnomAD-4.0.0 | 3.46259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5346E-05 | None | 0 | 0 | 1.81159E-06 | 0 | 3.35661E-05 |
| R/S | rs1470445238 |
-1.935 | 1.0 | N | 0.717 | 0.467 | 0.455816718377 | gnomAD-2.1.1 | 8.54E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.86E-05 | 0 |
| R/S | rs1470445238 |
-1.935 | 1.0 | N | 0.717 | 0.467 | 0.455816718377 | gnomAD-4.0.0 | 3.46007E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81076E-06 | 3.64016E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9706 | likely_pathogenic | 0.9829 | pathogenic | -1.65 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| R/C | 0.4686 | ambiguous | 0.6689 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.523788083 | None | None | N |
| R/D | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/E | 0.9697 | likely_pathogenic | 0.9772 | pathogenic | -0.707 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| R/F | 0.9769 | likely_pathogenic | 0.9887 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| R/G | 0.9725 | likely_pathogenic | 0.984 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.53463741 | None | None | N |
| R/H | 0.4496 | ambiguous | 0.5924 | pathogenic | -1.887 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.516697739 | None | None | N |
| R/I | 0.8938 | likely_pathogenic | 0.9475 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| R/K | 0.5616 | ambiguous | 0.6485 | pathogenic | -1.216 | Destabilizing | 0.998 | D | 0.633 | neutral | None | None | None | None | N |
| R/L | 0.8732 | likely_pathogenic | 0.9277 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.506871916 | None | None | N |
| R/M | 0.9358 | likely_pathogenic | 0.9687 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/N | 0.9883 | likely_pathogenic | 0.9909 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/P | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.534890899 | None | None | N |
| R/Q | 0.4013 | ambiguous | 0.5019 | ambiguous | -1.03 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| R/S | 0.9797 | likely_pathogenic | 0.9891 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.514669823 | None | None | N |
| R/T | 0.9637 | likely_pathogenic | 0.9802 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| R/V | 0.9107 | likely_pathogenic | 0.959 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/W | 0.7659 | likely_pathogenic | 0.8686 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| R/Y | 0.9398 | likely_pathogenic | 0.9694 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | 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.