Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3283 | 10072;10073;10074 | chr2:178764668;178764667;178764666 | chr2:179629395;179629394;179629393 |
| N2AB | 3283 | 10072;10073;10074 | chr2:178764668;178764667;178764666 | chr2:179629395;179629394;179629393 |
| N2A | 3283 | 10072;10073;10074 | chr2:178764668;178764667;178764666 | chr2:179629395;179629394;179629393 |
| N2B | 3237 | 9934;9935;9936 | chr2:178764668;178764667;178764666 | chr2:179629395;179629394;179629393 |
| Novex-1 | 3237 | 9934;9935;9936 | chr2:178764668;178764667;178764666 | chr2:179629395;179629394;179629393 |
| Novex-2 | 3237 | 9934;9935;9936 | chr2:178764668;178764667;178764666 | chr2:179629395;179629394;179629393 |
| Novex-3 | 3283 | 10072;10073;10074 | chr2:178764668;178764667;178764666 | chr2:179629395;179629394;179629393 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs780860026  |
-0.302 | 0.999 | D | 0.493 | 0.534 | 0.524894780827 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/L | rs780860026 |
-0.302 | 0.999 | D | 0.493 | 0.534 | 0.524894780827 | gnomAD-4.0.0 | 4.78852E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.11557E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9825 | likely_pathogenic | 0.9736 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.517 | neutral | None | None | None | None | I |
| F/C | 0.9687 | likely_pathogenic | 0.9608 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.641345403 | None | None | I |
| F/D | 0.9896 | likely_pathogenic | 0.9821 | pathogenic | 0.667 | Stabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| F/E | 0.9906 | likely_pathogenic | 0.983 | pathogenic | 0.636 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| F/G | 0.9865 | likely_pathogenic | 0.9801 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | I |
| F/H | 0.9657 | likely_pathogenic | 0.9521 | pathogenic | 0.339 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| F/I | 0.8822 | likely_pathogenic | 0.87 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.525308558 | None | None | I |
| F/K | 0.9897 | likely_pathogenic | 0.9833 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| F/L | 0.9895 | likely_pathogenic | 0.9881 | pathogenic | -0.305 | Destabilizing | 0.999 | D | 0.493 | neutral | D | 0.545297232 | None | None | I |
| F/M | 0.944 | likely_pathogenic | 0.9294 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| F/N | 0.9727 | likely_pathogenic | 0.9546 | pathogenic | -0.03 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| F/P | 0.995 | likely_pathogenic | 0.9939 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| F/Q | 0.9827 | likely_pathogenic | 0.9725 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| F/R | 0.9681 | likely_pathogenic | 0.9584 | pathogenic | 0.262 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| F/S | 0.9676 | likely_pathogenic | 0.9536 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.47657541 | None | None | I |
| F/T | 0.9832 | likely_pathogenic | 0.975 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.594 | neutral | None | None | None | None | I |
| F/V | 0.8958 | likely_pathogenic | 0.8799 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.559 | neutral | N | 0.508356931 | None | None | I |
| F/W | 0.8509 | likely_pathogenic | 0.8374 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| F/Y | 0.4608 | ambiguous | 0.4141 | ambiguous | -0.297 | Destabilizing | 0.999 | D | 0.496 | neutral | N | 0.508904342 | 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.