Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13691 | 41296;41297;41298 | chr2:178636656;178636655;178636654 | chr2:179501383;179501382;179501381 |
| N2AB | 12050 | 36373;36374;36375 | chr2:178636656;178636655;178636654 | chr2:179501383;179501382;179501381 |
| N2A | 11123 | 33592;33593;33594 | chr2:178636656;178636655;178636654 | chr2:179501383;179501382;179501381 |
| N2B | 4626 | 14101;14102;14103 | chr2:178636656;178636655;178636654 | chr2:179501383;179501382;179501381 |
| Novex-1 | 4751 | 14476;14477;14478 | chr2:178636656;178636655;178636654 | chr2:179501383;179501382;179501381 |
| Novex-2 | 4818 | 14677;14678;14679 | chr2:178636656;178636655;178636654 | chr2:179501383;179501382;179501381 |
| 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/G | None | None | 1.0 | D | 0.787 | 0.711 | 0.543910352347 | gnomAD-4.0.0 | 1.59225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85992E-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 | 0.9811 | likely_pathogenic | 0.9755 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.578834232 | None | None | N |
| D/C | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/E | 0.9319 | likely_pathogenic | 0.924 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.511 | neutral | D | 0.598059736 | None | None | N |
| D/F | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/G | 0.9452 | likely_pathogenic | 0.9424 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.589754771 | None | None | N |
| D/H | 0.9837 | likely_pathogenic | 0.9846 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.804 | deleterious | D | 0.636718803 | None | None | N |
| D/I | 0.999 | likely_pathogenic | 0.9988 | pathogenic | 0.516 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/K | 0.9963 | likely_pathogenic | 0.9963 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/L | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | 0.516 | Stabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| D/M | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | 0.538 | Stabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| D/N | 0.6024 | likely_pathogenic | 0.5602 | ambiguous | -0.569 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.497847888 | None | None | N |
| D/P | 0.9862 | likely_pathogenic | 0.9746 | pathogenic | 0.284 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/Q | 0.9948 | likely_pathogenic | 0.9949 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/R | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | 0.317 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/S | 0.9096 | likely_pathogenic | 0.8958 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| D/T | 0.9811 | likely_pathogenic | 0.9815 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/V | 0.9954 | likely_pathogenic | 0.9944 | pathogenic | 0.284 | Stabilizing | 1.0 | D | 0.863 | deleterious | D | 0.568623759 | None | None | N |
| D/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 0.447 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/Y | 0.9857 | likely_pathogenic | 0.9859 | pathogenic | 0.498 | Stabilizing | 1.0 | D | 0.859 | deleterious | D | 0.635945103 | 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.