Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33394 | 100405;100406;100407 | chr2:178536567;178536566;178536565 | chr2:179401294;179401293;179401292 |
| N2AB | 31753 | 95482;95483;95484 | chr2:178536567;178536566;178536565 | chr2:179401294;179401293;179401292 |
| N2A | 30826 | 92701;92702;92703 | chr2:178536567;178536566;178536565 | chr2:179401294;179401293;179401292 |
| N2B | 24329 | 73210;73211;73212 | chr2:178536567;178536566;178536565 | chr2:179401294;179401293;179401292 |
| Novex-1 | 24454 | 73585;73586;73587 | chr2:178536567;178536566;178536565 | chr2:179401294;179401293;179401292 |
| Novex-2 | 24521 | 73786;73787;73788 | chr2:178536567;178536566;178536565 | chr2:179401294;179401293;179401292 |
| 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 | None | None | 0.201 | N | 0.527 | 0.165 | 0.17948927462 | gnomAD-4.0.0 | 7.46551E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.57001E-05 | 0 |
| G/D | rs770179598  |
-1.478 | 0.468 | N | 0.621 | 0.117 | 0.202086224978 | gnomAD-2.1.1 | 1.56E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.8849E-04 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs770179598 |
-1.478 | 0.468 | N | 0.621 | 0.117 | 0.202086224978 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.8506E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs770179598 |
-1.478 | 0.468 | N | 0.621 | 0.117 | 0.202086224978 | gnomAD-4.0.0 | 1.07262E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.46949E-04 | None | 0 | 0 | 0 | 0 | 1.74429E-05 |
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 | 0.1122 | likely_benign | 0.1038 | benign | -0.742 | Destabilizing | 0.201 | N | 0.527 | neutral | N | 0.487129182 | None | None | N |
| G/C | 0.2256 | likely_benign | 0.212 | benign | -1.17 | Destabilizing | 0.008 | N | 0.589 | neutral | N | 0.512034293 | None | None | N |
| G/D | 0.2597 | likely_benign | 0.2813 | benign | -1.611 | Destabilizing | 0.468 | N | 0.621 | neutral | N | 0.495967302 | None | None | N |
| G/E | 0.2825 | likely_benign | 0.293 | benign | -1.72 | Destabilizing | 0.539 | D | 0.621 | neutral | None | None | None | None | N |
| G/F | 0.6495 | likely_pathogenic | 0.6076 | pathogenic | -1.407 | Destabilizing | 0.826 | D | 0.734 | prob.delet. | None | None | None | None | N |
| G/H | 0.5373 | ambiguous | 0.5303 | ambiguous | -1.123 | Destabilizing | 0.898 | D | 0.667 | neutral | None | None | None | None | N |
| G/I | 0.3195 | likely_benign | 0.3013 | benign | -0.628 | Destabilizing | 0.7 | D | 0.746 | deleterious | None | None | None | None | N |
| G/K | 0.5162 | ambiguous | 0.5546 | ambiguous | -1.146 | Destabilizing | 0.539 | D | 0.613 | neutral | None | None | None | None | N |
| G/L | 0.3674 | ambiguous | 0.3239 | benign | -0.628 | Destabilizing | 0.539 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/M | 0.4832 | ambiguous | 0.4221 | ambiguous | -0.496 | Destabilizing | 0.982 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/N | 0.3325 | likely_benign | 0.2999 | benign | -0.914 | Destabilizing | 0.005 | N | 0.395 | neutral | None | None | None | None | N |
| G/P | 0.9087 | likely_pathogenic | 0.9154 | pathogenic | -0.631 | Destabilizing | 0.7 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/Q | 0.4219 | ambiguous | 0.4195 | ambiguous | -1.241 | Destabilizing | 0.7 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/R | 0.4251 | ambiguous | 0.4613 | ambiguous | -0.73 | Destabilizing | 0.638 | D | 0.703 | prob.neutral | N | 0.49291608 | None | None | N |
| G/S | 0.0946 | likely_benign | 0.0879 | benign | -1.058 | Destabilizing | 0.002 | N | 0.381 | neutral | N | 0.460139787 | None | None | N |
| G/T | 0.1484 | likely_benign | 0.1388 | benign | -1.11 | Destabilizing | 0.539 | D | 0.617 | neutral | None | None | None | None | N |
| G/V | 0.2198 | likely_benign | 0.2088 | benign | -0.631 | Destabilizing | 0.468 | N | 0.722 | prob.delet. | N | 0.500006424 | None | None | N |
| G/W | 0.6416 | likely_pathogenic | 0.6341 | pathogenic | -1.613 | Destabilizing | 0.982 | D | 0.667 | neutral | None | None | None | None | N |
| G/Y | 0.5674 | likely_pathogenic | 0.5451 | ambiguous | -1.234 | Destabilizing | 0.947 | D | 0.726 | prob.delet. | 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.