Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2723 | 8392;8393;8394 | chr2:178770625;178770624;178770623 | chr2:179635352;179635351;179635350 |
| N2AB | 2723 | 8392;8393;8394 | chr2:178770625;178770624;178770623 | chr2:179635352;179635351;179635350 |
| N2A | 2723 | 8392;8393;8394 | chr2:178770625;178770624;178770623 | chr2:179635352;179635351;179635350 |
| N2B | 2677 | 8254;8255;8256 | chr2:178770625;178770624;178770623 | chr2:179635352;179635351;179635350 |
| Novex-1 | 2677 | 8254;8255;8256 | chr2:178770625;178770624;178770623 | chr2:179635352;179635351;179635350 |
| Novex-2 | 2677 | 8254;8255;8256 | chr2:178770625;178770624;178770623 | chr2:179635352;179635351;179635350 |
| Novex-3 | 2723 | 8392;8393;8394 | chr2:178770625;178770624;178770623 | chr2:179635352;179635351;179635350 |
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/E | None | None | 0.002 | N | 0.107 | 0.045 | 0.17948927462 | gnomAD-4.0.0 | 1.59077E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76599E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | None | None | 0.379 | D | 0.346 | 0.313 | 0.292423486923 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/N | rs766896377  |
-0.617 | 0.004 | N | 0.203 | 0.11 | None | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| D/N | rs766896377 |
-0.617 | 0.004 | N | 0.203 | 0.11 | None | gnomAD-4.0.0 | 2.80492E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59719E-05 | 1.15937E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4113 | ambiguous | 0.5593 | ambiguous | -0.463 | Destabilizing | 0.201 | N | 0.339 | neutral | N | 0.507704101 | None | None | N |
| D/C | 0.8839 | likely_pathogenic | 0.9506 | pathogenic | -0.217 | Destabilizing | 0.992 | D | 0.427 | neutral | None | None | None | None | N |
| D/E | 0.2541 | likely_benign | 0.4033 | ambiguous | -0.774 | Destabilizing | 0.002 | N | 0.107 | neutral | N | 0.488805099 | None | None | N |
| D/F | 0.8935 | likely_pathogenic | 0.9593 | pathogenic | -0.356 | Destabilizing | 0.92 | D | 0.439 | neutral | None | None | None | None | N |
| D/G | 0.4457 | ambiguous | 0.618 | pathogenic | -0.765 | Destabilizing | 0.379 | N | 0.346 | neutral | D | 0.602123773 | None | None | N |
| D/H | 0.6176 | likely_pathogenic | 0.789 | pathogenic | -0.709 | Destabilizing | 0.81 | D | 0.345 | neutral | D | 0.560940898 | None | None | N |
| D/I | 0.7654 | likely_pathogenic | 0.9063 | pathogenic | 0.317 | Stabilizing | 0.447 | N | 0.403 | neutral | None | None | None | None | N |
| D/K | 0.8043 | likely_pathogenic | 0.9149 | pathogenic | -0.504 | Destabilizing | 0.447 | N | 0.329 | neutral | None | None | None | None | N |
| D/L | 0.774 | likely_pathogenic | 0.9075 | pathogenic | 0.317 | Stabilizing | 0.447 | N | 0.407 | neutral | None | None | None | None | N |
| D/M | 0.8722 | likely_pathogenic | 0.952 | pathogenic | 0.728 | Stabilizing | 0.977 | D | 0.411 | neutral | None | None | None | None | N |
| D/N | 0.1905 | likely_benign | 0.2858 | benign | -0.773 | Destabilizing | 0.004 | N | 0.203 | neutral | N | 0.510589752 | None | None | N |
| D/P | 0.8496 | likely_pathogenic | 0.8974 | pathogenic | 0.082 | Stabilizing | 0.92 | D | 0.363 | neutral | None | None | None | None | N |
| D/Q | 0.7035 | likely_pathogenic | 0.8626 | pathogenic | -0.674 | Destabilizing | 0.447 | N | 0.331 | neutral | None | None | None | None | N |
| D/R | 0.8471 | likely_pathogenic | 0.9386 | pathogenic | -0.375 | Destabilizing | 0.85 | D | 0.401 | neutral | None | None | None | None | N |
| D/S | 0.3094 | likely_benign | 0.4276 | ambiguous | -0.979 | Destabilizing | 0.25 | N | 0.285 | neutral | None | None | None | None | N |
| D/T | 0.4908 | ambiguous | 0.6806 | pathogenic | -0.748 | Destabilizing | 0.021 | N | 0.23 | neutral | None | None | None | None | N |
| D/V | 0.5257 | ambiguous | 0.748 | pathogenic | 0.082 | Stabilizing | 0.004 | N | 0.299 | neutral | N | 0.510589752 | None | None | N |
| D/W | 0.974 | likely_pathogenic | 0.99 | pathogenic | -0.285 | Destabilizing | 0.992 | D | 0.551 | neutral | None | None | None | None | N |
| D/Y | 0.5445 | ambiguous | 0.755 | pathogenic | -0.169 | Destabilizing | 0.963 | D | 0.434 | neutral | D | 0.603621284 | 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.