Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16089 | 48490;48491;48492 | chr2:178616526;178616525;178616524 | chr2:179481253;179481252;179481251 |
| N2AB | 14448 | 43567;43568;43569 | chr2:178616526;178616525;178616524 | chr2:179481253;179481252;179481251 |
| N2A | 13521 | 40786;40787;40788 | chr2:178616526;178616525;178616524 | chr2:179481253;179481252;179481251 |
| N2B | 7024 | 21295;21296;21297 | chr2:178616526;178616525;178616524 | chr2:179481253;179481252;179481251 |
| Novex-1 | 7149 | 21670;21671;21672 | chr2:178616526;178616525;178616524 | chr2:179481253;179481252;179481251 |
| Novex-2 | 7216 | 21871;21872;21873 | chr2:178616526;178616525;178616524 | chr2:179481253;179481252;179481251 |
| 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/E | None | None | 1.0 | N | 0.889 | 0.373 | 0.508046185061 | gnomAD-4.0.0 | 1.59398E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43365E-05 | 0 |
| G/R | rs2057375526  |
None | 1.0 | N | 0.911 | 0.366 | 0.656612881856 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs2057375526 |
None | 1.0 | N | 0.911 | 0.366 | 0.656612881856 | gnomAD-4.0.0 | 6.5864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3356 | likely_benign | 0.4104 | ambiguous | -0.495 | Destabilizing | 1.0 | D | 0.558 | neutral | N | 0.515765048 | None | None | N |
| G/C | 0.4834 | ambiguous | 0.6296 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/D | 0.78 | likely_pathogenic | 0.8632 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/E | 0.8212 | likely_pathogenic | 0.8759 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.486729439 | None | None | N |
| G/F | 0.9383 | likely_pathogenic | 0.9641 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| G/H | 0.8318 | likely_pathogenic | 0.9078 | pathogenic | -1.342 | Destabilizing | 0.964 | D | 0.759 | deleterious | None | None | None | None | N |
| G/I | 0.9251 | likely_pathogenic | 0.9511 | pathogenic | 0.289 | Stabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/K | 0.9485 | likely_pathogenic | 0.9681 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| G/L | 0.9293 | likely_pathogenic | 0.9614 | pathogenic | 0.289 | Stabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/M | 0.9295 | likely_pathogenic | 0.9609 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/N | 0.7623 | likely_pathogenic | 0.8581 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/P | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | 0.071 | Stabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| G/Q | 0.86 | likely_pathogenic | 0.9094 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/R | 0.8653 | likely_pathogenic | 0.9046 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.911 | deleterious | N | 0.504077389 | None | None | N |
| G/S | 0.252 | likely_benign | 0.3359 | benign | -1.024 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| G/T | 0.655 | likely_pathogenic | 0.7626 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/V | 0.8362 | likely_pathogenic | 0.8879 | pathogenic | 0.071 | Stabilizing | 1.0 | D | 0.915 | deleterious | D | 0.584235469 | None | None | N |
| G/W | 0.8722 | likely_pathogenic | 0.9183 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/Y | 0.856 | likely_pathogenic | 0.9203 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.919 | 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.