Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23502 | 70729;70730;70731 | chr2:178575628;178575627;178575626 | chr2:179440355;179440354;179440353 |
| N2AB | 21861 | 65806;65807;65808 | chr2:178575628;178575627;178575626 | chr2:179440355;179440354;179440353 |
| N2A | 20934 | 63025;63026;63027 | chr2:178575628;178575627;178575626 | chr2:179440355;179440354;179440353 |
| N2B | 14437 | 43534;43535;43536 | chr2:178575628;178575627;178575626 | chr2:179440355;179440354;179440353 |
| Novex-1 | 14562 | 43909;43910;43911 | chr2:178575628;178575627;178575626 | chr2:179440355;179440354;179440353 |
| Novex-2 | 14629 | 44110;44111;44112 | chr2:178575628;178575627;178575626 | chr2:179440355;179440354;179440353 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs755417099  |
None | 0.057 | N | 0.45 | 0.286 | 0.365120060079 | gnomAD-4.0.0 | 1.59176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85925E-06 | 0 | 0 |
| G/E | rs755417099 |
-1.018 | 0.951 | N | 0.819 | 0.417 | 0.617086127331 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67504E-04 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs755417099 |
-1.018 | 0.951 | N | 0.819 | 0.417 | 0.617086127331 | gnomAD-4.0.0 | 4.77529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.32778E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs781343586 |
-0.317 | 0.156 | D | 0.577 | 0.41 | 0.559387959211 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/R | rs781343586 |
-0.317 | 0.156 | D | 0.577 | 0.41 | 0.559387959211 | gnomAD-4.0.0 | 4.77529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57765E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4999 | ambiguous | 0.4625 | ambiguous | -0.433 | Destabilizing | 0.057 | N | 0.45 | neutral | N | 0.489052782 | None | None | N |
| G/C | 0.6768 | likely_pathogenic | 0.6245 | pathogenic | -0.828 | Destabilizing | 0.998 | D | 0.852 | deleterious | None | None | None | None | N |
| G/D | 0.7048 | likely_pathogenic | 0.6545 | pathogenic | -0.851 | Destabilizing | 0.951 | D | 0.784 | deleterious | None | None | None | None | N |
| G/E | 0.7991 | likely_pathogenic | 0.7506 | pathogenic | -1.024 | Destabilizing | 0.951 | D | 0.819 | deleterious | N | 0.514234155 | None | None | N |
| G/F | 0.9467 | likely_pathogenic | 0.9288 | pathogenic | -1.205 | Destabilizing | 0.997 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.8839 | likely_pathogenic | 0.841 | pathogenic | -0.668 | Destabilizing | 0.997 | D | 0.855 | deleterious | None | None | None | None | N |
| G/I | 0.9232 | likely_pathogenic | 0.912 | pathogenic | -0.557 | Destabilizing | 0.991 | D | 0.849 | deleterious | None | None | None | None | N |
| G/K | 0.9317 | likely_pathogenic | 0.9195 | pathogenic | -0.876 | Destabilizing | 0.963 | D | 0.775 | deleterious | None | None | None | None | N |
| G/L | 0.9119 | likely_pathogenic | 0.8803 | pathogenic | -0.557 | Destabilizing | 0.981 | D | 0.792 | deleterious | None | None | None | None | N |
| G/M | 0.9079 | likely_pathogenic | 0.8836 | pathogenic | -0.394 | Destabilizing | 0.999 | D | 0.848 | deleterious | None | None | None | None | N |
| G/N | 0.539 | ambiguous | 0.4699 | ambiguous | -0.474 | Destabilizing | 0.981 | D | 0.832 | deleterious | None | None | None | None | N |
| G/P | 0.9917 | likely_pathogenic | 0.9909 | pathogenic | -0.483 | Destabilizing | 0.975 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.8515 | likely_pathogenic | 0.8081 | pathogenic | -0.833 | Destabilizing | 0.981 | D | 0.86 | deleterious | None | None | None | None | N |
| G/R | 0.885 | likely_pathogenic | 0.8666 | pathogenic | -0.36 | Destabilizing | 0.156 | N | 0.577 | neutral | D | 0.530630117 | None | None | N |
| G/S | 0.2673 | likely_benign | 0.239 | benign | -0.607 | Destabilizing | 0.565 | D | 0.778 | deleterious | None | None | None | None | N |
| G/T | 0.5979 | likely_pathogenic | 0.5447 | ambiguous | -0.722 | Destabilizing | 0.981 | D | 0.81 | deleterious | None | None | None | None | N |
| G/V | 0.8538 | likely_pathogenic | 0.8306 | pathogenic | -0.483 | Destabilizing | 0.975 | D | 0.8 | deleterious | D | 0.528428071 | None | None | N |
| G/W | 0.925 | likely_pathogenic | 0.9032 | pathogenic | -1.327 | Destabilizing | 0.999 | D | 0.851 | deleterious | N | 0.501449499 | None | None | N |
| G/Y | 0.8917 | likely_pathogenic | 0.8666 | pathogenic | -0.988 | Destabilizing | 0.997 | D | 0.861 | 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.