Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28368 | 85327;85328;85329 | chr2:178561030;178561029;178561028 | chr2:179425757;179425756;179425755 |
| N2AB | 26727 | 80404;80405;80406 | chr2:178561030;178561029;178561028 | chr2:179425757;179425756;179425755 |
| N2A | 25800 | 77623;77624;77625 | chr2:178561030;178561029;178561028 | chr2:179425757;179425756;179425755 |
| N2B | 19303 | 58132;58133;58134 | chr2:178561030;178561029;178561028 | chr2:179425757;179425756;179425755 |
| Novex-1 | 19428 | 58507;58508;58509 | chr2:178561030;178561029;178561028 | chr2:179425757;179425756;179425755 |
| Novex-2 | 19495 | 58708;58709;58710 | chr2:178561030;178561029;178561028 | chr2:179425757;179425756;179425755 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.055 | N | 0.529 | 0.271 | 0.582764979894 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85799E-06 | 0 | 0 |
| V/F | rs879238395  |
-0.919 | 0.497 | D | 0.647 | 0.456 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/F | rs879238395 |
-0.919 | 0.497 | D | 0.647 | 0.456 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs879238395 |
-0.919 | 0.497 | D | 0.647 | 0.456 | None | gnomAD-4.0.0 | 4.33777E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93319E-06 | 0 | 0 |
| V/I | None | None | 0.001 | N | 0.208 | 0.117 | 0.568106843281 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2053 | likely_benign | 0.1964 | benign | -0.936 | Destabilizing | 0.055 | N | 0.529 | neutral | N | 0.485897047 | None | None | I |
| V/C | 0.7587 | likely_pathogenic | 0.7515 | pathogenic | -0.781 | Destabilizing | 0.968 | D | 0.628 | neutral | None | None | None | None | I |
| V/D | 0.4825 | ambiguous | 0.4496 | ambiguous | -0.843 | Destabilizing | 0.497 | N | 0.752 | deleterious | N | 0.490380499 | None | None | I |
| V/E | 0.3367 | likely_benign | 0.3281 | benign | -0.882 | Destabilizing | 0.726 | D | 0.713 | prob.delet. | None | None | None | None | I |
| V/F | 0.1967 | likely_benign | 0.1876 | benign | -0.769 | Destabilizing | 0.497 | N | 0.647 | neutral | D | 0.529413392 | None | None | I |
| V/G | 0.3452 | ambiguous | 0.3161 | benign | -1.177 | Destabilizing | 0.001 | N | 0.462 | neutral | N | 0.502408367 | None | None | I |
| V/H | 0.5942 | likely_pathogenic | 0.5772 | pathogenic | -0.626 | Destabilizing | 0.968 | D | 0.751 | deleterious | None | None | None | None | I |
| V/I | 0.085 | likely_benign | 0.0856 | benign | -0.405 | Destabilizing | 0.001 | N | 0.208 | neutral | N | 0.482478795 | None | None | I |
| V/K | 0.3873 | ambiguous | 0.3907 | ambiguous | -0.961 | Destabilizing | 0.567 | D | 0.718 | prob.delet. | None | None | None | None | I |
| V/L | 0.2102 | likely_benign | 0.1944 | benign | -0.405 | Destabilizing | 0.02 | N | 0.466 | neutral | N | 0.490633988 | None | None | I |
| V/M | 0.1606 | likely_benign | 0.1536 | benign | -0.445 | Destabilizing | 0.567 | D | 0.483 | neutral | None | None | None | None | I |
| V/N | 0.3784 | ambiguous | 0.3485 | ambiguous | -0.778 | Destabilizing | 0.567 | D | 0.77 | deleterious | None | None | None | None | I |
| V/P | 0.6057 | likely_pathogenic | 0.5734 | pathogenic | -0.547 | Destabilizing | 0.89 | D | 0.733 | prob.delet. | None | None | None | None | I |
| V/Q | 0.3655 | ambiguous | 0.3642 | ambiguous | -0.953 | Destabilizing | 0.89 | D | 0.732 | prob.delet. | None | None | None | None | I |
| V/R | 0.3102 | likely_benign | 0.3138 | benign | -0.405 | Destabilizing | 0.726 | D | 0.771 | deleterious | None | None | None | None | I |
| V/S | 0.2538 | likely_benign | 0.2377 | benign | -1.187 | Destabilizing | 0.567 | D | 0.648 | neutral | None | None | None | None | I |
| V/T | 0.1464 | likely_benign | 0.143 | benign | -1.119 | Destabilizing | 0.272 | N | 0.472 | neutral | None | None | None | None | I |
| V/W | 0.8124 | likely_pathogenic | 0.8022 | pathogenic | -0.922 | Destabilizing | 0.968 | D | 0.719 | prob.delet. | None | None | None | None | I |
| V/Y | 0.571 | likely_pathogenic | 0.5489 | ambiguous | -0.635 | Destabilizing | 0.726 | D | 0.663 | neutral | None | None | None | None | I |
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.