Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33678 | 101257;101258;101259 | chr2:178535583;178535582;178535581 | chr2:179400310;179400309;179400308 |
| N2AB | 32037 | 96334;96335;96336 | chr2:178535583;178535582;178535581 | chr2:179400310;179400309;179400308 |
| N2A | 31110 | 93553;93554;93555 | chr2:178535583;178535582;178535581 | chr2:179400310;179400309;179400308 |
| N2B | 24613 | 74062;74063;74064 | chr2:178535583;178535582;178535581 | chr2:179400310;179400309;179400308 |
| Novex-1 | 24738 | 74437;74438;74439 | chr2:178535583;178535582;178535581 | chr2:179400310;179400309;179400308 |
| Novex-2 | 24805 | 74638;74639;74640 | chr2:178535583;178535582;178535581 | chr2:179400310;179400309;179400308 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs1268811847  |
-0.922 | 1.0 | N | 0.769 | 0.587 | 0.460438652622 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/H | rs1268811847 |
-0.922 | 1.0 | N | 0.769 | 0.587 | 0.460438652622 | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46968E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8329 | likely_pathogenic | 0.6739 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.481627859 | None | None | N |
| D/C | 0.9846 | likely_pathogenic | 0.9589 | pathogenic | 0.054 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| D/E | 0.8538 | likely_pathogenic | 0.7178 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.529 | neutral | N | 0.511662765 | None | None | N |
| D/F | 0.9883 | likely_pathogenic | 0.9695 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/G | 0.8982 | likely_pathogenic | 0.777 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.498836742 | None | None | N |
| D/H | 0.9422 | likely_pathogenic | 0.8861 | pathogenic | -0.023 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.510357631 | None | None | N |
| D/I | 0.9865 | likely_pathogenic | 0.9542 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/K | 0.9898 | likely_pathogenic | 0.965 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/L | 0.9748 | likely_pathogenic | 0.9338 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/M | 0.9931 | likely_pathogenic | 0.982 | pathogenic | 0.295 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/N | 0.5966 | likely_pathogenic | 0.4534 | ambiguous | 0.138 | Stabilizing | 1.0 | D | 0.671 | neutral | N | 0.491239418 | None | None | N |
| D/P | 0.9983 | likely_pathogenic | 0.9956 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/Q | 0.9637 | likely_pathogenic | 0.9078 | pathogenic | 0.14 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/R | 0.988 | likely_pathogenic | 0.961 | pathogenic | 0.457 | Stabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| D/S | 0.616 | likely_pathogenic | 0.4494 | ambiguous | 0.015 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/T | 0.9163 | likely_pathogenic | 0.8183 | pathogenic | 0.14 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/V | 0.9553 | likely_pathogenic | 0.8753 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.869 | deleterious | N | 0.477126117 | None | None | N |
| D/W | 0.9985 | likely_pathogenic | 0.9957 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/Y | 0.9509 | likely_pathogenic | 0.8799 | pathogenic | -0.006 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.510611121 | 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.