Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29745 | 89458;89459;89460 | chr2:178553772;178553771;178553770 | chr2:179418499;179418498;179418497 |
| N2AB | 28104 | 84535;84536;84537 | chr2:178553772;178553771;178553770 | chr2:179418499;179418498;179418497 |
| N2A | 27177 | 81754;81755;81756 | chr2:178553772;178553771;178553770 | chr2:179418499;179418498;179418497 |
| N2B | 20680 | 62263;62264;62265 | chr2:178553772;178553771;178553770 | chr2:179418499;179418498;179418497 |
| Novex-1 | 20805 | 62638;62639;62640 | chr2:178553772;178553771;178553770 | chr2:179418499;179418498;179418497 |
| Novex-2 | 20872 | 62839;62840;62841 | chr2:178553772;178553771;178553770 | chr2:179418499;179418498;179418497 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.382 | 0.261 | 0.216624796971 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/H | None | None | 1.0 | N | 0.641 | 0.439 | 0.356897458496 | gnomAD-4.0.0 | 1.61087E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89677E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8524 | likely_pathogenic | 0.8869 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.51026475 | None | None | N |
| D/C | 0.9893 | likely_pathogenic | 0.9905 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/E | 0.843 | likely_pathogenic | 0.8757 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.382 | neutral | N | 0.469628849 | None | None | N |
| D/F | 0.9824 | likely_pathogenic | 0.9839 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/G | 0.8341 | likely_pathogenic | 0.8624 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.508803313 | None | None | N |
| D/H | 0.9504 | likely_pathogenic | 0.9579 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.477195363 | None | None | N |
| D/I | 0.9792 | likely_pathogenic | 0.9817 | pathogenic | 0.088 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/K | 0.9661 | likely_pathogenic | 0.974 | pathogenic | 0.38 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| D/L | 0.9638 | likely_pathogenic | 0.9674 | pathogenic | 0.088 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/M | 0.9913 | likely_pathogenic | 0.993 | pathogenic | 0.328 | Stabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| D/N | 0.6264 | likely_pathogenic | 0.6345 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.631 | neutral | N | 0.474632024 | None | None | N |
| D/P | 0.9964 | likely_pathogenic | 0.9958 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/Q | 0.9559 | likely_pathogenic | 0.968 | pathogenic | 0.082 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/R | 0.9566 | likely_pathogenic | 0.9667 | pathogenic | 0.456 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/S | 0.7408 | likely_pathogenic | 0.7774 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| D/T | 0.9284 | likely_pathogenic | 0.9387 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/V | 0.9294 | likely_pathogenic | 0.938 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.48728422 | None | None | N |
| D/W | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| D/Y | 0.8908 | likely_pathogenic | 0.9067 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.662 | neutral | N | 0.499907973 | 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.