Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24491 | 73696;73697;73698 | chr2:178572661;178572660;178572659 | chr2:179437388;179437387;179437386 |
| N2AB | 22850 | 68773;68774;68775 | chr2:178572661;178572660;178572659 | chr2:179437388;179437387;179437386 |
| N2A | 21923 | 65992;65993;65994 | chr2:178572661;178572660;178572659 | chr2:179437388;179437387;179437386 |
| N2B | 15426 | 46501;46502;46503 | chr2:178572661;178572660;178572659 | chr2:179437388;179437387;179437386 |
| Novex-1 | 15551 | 46876;46877;46878 | chr2:178572661;178572660;178572659 | chr2:179437388;179437387;179437386 |
| Novex-2 | 15618 | 47077;47078;47079 | chr2:178572661;178572660;178572659 | chr2:179437388;179437387;179437386 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | None | None | 1.0 | N | 0.725 | 0.433 | 0.361758802978 | gnomAD-4.0.0 | 2.0536E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73792E-04 | 0 | 2.32099E-05 | 0 |
| R/T | None | None | 1.0 | N | 0.65 | 0.395 | 0.294561560033 | gnomAD-4.0.0 | 6.84533E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99794E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9842 | likely_pathogenic | 0.9849 | pathogenic | -0.083 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | I |
| R/C | 0.8493 | likely_pathogenic | 0.8246 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| R/D | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| R/E | 0.9818 | likely_pathogenic | 0.9836 | pathogenic | -0.022 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | I |
| R/F | 0.9938 | likely_pathogenic | 0.9948 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| R/G | 0.9766 | likely_pathogenic | 0.9785 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.603 | neutral | N | 0.493092393 | None | None | I |
| R/H | 0.6916 | likely_pathogenic | 0.6764 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| R/I | 0.953 | likely_pathogenic | 0.962 | pathogenic | 0.469 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.477999878 | None | None | I |
| R/K | 0.5937 | likely_pathogenic | 0.6251 | pathogenic | -0.144 | Destabilizing | 0.997 | D | 0.547 | neutral | N | 0.455260814 | None | None | I |
| R/L | 0.9371 | likely_pathogenic | 0.9414 | pathogenic | 0.469 | Stabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | I |
| R/M | 0.9792 | likely_pathogenic | 0.9814 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| R/N | 0.9907 | likely_pathogenic | 0.9913 | pathogenic | 0.013 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| R/P | 0.9864 | likely_pathogenic | 0.9868 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| R/Q | 0.7142 | likely_pathogenic | 0.7231 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| R/S | 0.9901 | likely_pathogenic | 0.9906 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.470429008 | None | None | I |
| R/T | 0.9848 | likely_pathogenic | 0.9864 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.65 | neutral | N | 0.472074849 | None | None | I |
| R/V | 0.9708 | likely_pathogenic | 0.9765 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| R/W | 0.9186 | likely_pathogenic | 0.9217 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| R/Y | 0.9626 | likely_pathogenic | 0.9673 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | 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.