Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3223 | 9892;9893;9894 | chr2:178766417;178766416;178766415 | chr2:179631144;179631143;179631142 |
| N2AB | 3223 | 9892;9893;9894 | chr2:178766417;178766416;178766415 | chr2:179631144;179631143;179631142 |
| N2A | 3223 | 9892;9893;9894 | chr2:178766417;178766416;178766415 | chr2:179631144;179631143;179631142 |
| N2B | 3177 | 9754;9755;9756 | chr2:178766417;178766416;178766415 | chr2:179631144;179631143;179631142 |
| Novex-1 | 3177 | 9754;9755;9756 | chr2:178766417;178766416;178766415 | chr2:179631144;179631143;179631142 |
| Novex-2 | 3177 | 9754;9755;9756 | chr2:178766417;178766416;178766415 | chr2:179631144;179631143;179631142 |
| Novex-3 | 3223 | 9892;9893;9894 | chr2:178766417;178766416;178766415 | chr2:179631144;179631143;179631142 |
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/R | None | None | 1.0 | N | 0.785 | 0.528 | 0.328222422547 | gnomAD-4.0.0 | 6.84105E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7942 | likely_pathogenic | 0.7759 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.428882348 | None | None | N |
| G/C | 0.957 | likely_pathogenic | 0.9498 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/D | 0.957 | likely_pathogenic | 0.9482 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/E | 0.9649 | likely_pathogenic | 0.9535 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.371227351 | None | None | N |
| G/F | 0.9895 | likely_pathogenic | 0.9894 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/H | 0.9864 | likely_pathogenic | 0.9854 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/I | 0.9901 | likely_pathogenic | 0.9892 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/K | 0.9832 | likely_pathogenic | 0.9818 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/L | 0.9735 | likely_pathogenic | 0.9744 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/M | 0.9888 | likely_pathogenic | 0.9884 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/N | 0.9541 | likely_pathogenic | 0.9494 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/P | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/Q | 0.9648 | likely_pathogenic | 0.9612 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/R | 0.9591 | likely_pathogenic | 0.9546 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.347749836 | None | None | N |
| G/S | 0.6572 | likely_pathogenic | 0.645 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/T | 0.9606 | likely_pathogenic | 0.9546 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/V | 0.9733 | likely_pathogenic | 0.9723 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.468581297 | None | None | N |
| G/W | 0.9844 | likely_pathogenic | 0.9833 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/Y | 0.9876 | likely_pathogenic | 0.9873 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.731 | 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.