Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2131 | 6616;6617;6618 | chr2:178775473;178775472;178775471 | chr2:179640200;179640199;179640198 |
| N2AB | 2131 | 6616;6617;6618 | chr2:178775473;178775472;178775471 | chr2:179640200;179640199;179640198 |
| N2A | 2131 | 6616;6617;6618 | chr2:178775473;178775472;178775471 | chr2:179640200;179640199;179640198 |
| N2B | 2085 | 6478;6479;6480 | chr2:178775473;178775472;178775471 | chr2:179640200;179640199;179640198 |
| Novex-1 | 2085 | 6478;6479;6480 | chr2:178775473;178775472;178775471 | chr2:179640200;179640199;179640198 |
| Novex-2 | 2085 | 6478;6479;6480 | chr2:178775473;178775472;178775471 | chr2:179640200;179640199;179640198 |
| Novex-3 | 2131 | 6616;6617;6618 | chr2:178775473;178775472;178775471 | chr2:179640200;179640199;179640198 |
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/H | None | None | 1.0 | D | 0.671 | 0.747 | 0.515430650102 | gnomAD-4.0.0 | 6.84111E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| D/N | None | None | 1.0 | N | 0.673 | 0.511 | 0.452928561435 | gnomAD-4.0.0 | 6.84111E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.993E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5805 | likely_pathogenic | 0.5597 | ambiguous | -0.127 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.531261469 | None | None | N |
| D/C | 0.9675 | likely_pathogenic | 0.9607 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/E | 0.3887 | ambiguous | 0.3525 | ambiguous | -0.312 | Destabilizing | 1.0 | D | 0.502 | neutral | D | 0.522187335 | None | None | N |
| D/F | 0.9313 | likely_pathogenic | 0.9221 | pathogenic | -0.149 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/G | 0.47 | ambiguous | 0.4416 | ambiguous | -0.274 | Destabilizing | 1.0 | D | 0.668 | neutral | N | 0.513604009 | None | None | N |
| D/H | 0.8094 | likely_pathogenic | 0.7901 | pathogenic | 0.298 | Stabilizing | 1.0 | D | 0.671 | neutral | D | 0.596509044 | None | None | N |
| D/I | 0.8826 | likely_pathogenic | 0.8688 | pathogenic | 0.197 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| D/K | 0.8225 | likely_pathogenic | 0.8139 | pathogenic | 0.393 | Stabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/L | 0.8459 | likely_pathogenic | 0.8339 | pathogenic | 0.197 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| D/M | 0.9303 | likely_pathogenic | 0.9219 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/N | 0.2651 | likely_benign | 0.2406 | benign | 0.116 | Stabilizing | 1.0 | D | 0.673 | neutral | N | 0.515264399 | None | None | N |
| D/P | 0.9219 | likely_pathogenic | 0.9239 | pathogenic | 0.109 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/Q | 0.7834 | likely_pathogenic | 0.7668 | pathogenic | 0.127 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| D/R | 0.8439 | likely_pathogenic | 0.8392 | pathogenic | 0.615 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/S | 0.4759 | ambiguous | 0.4416 | ambiguous | 0.027 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/T | 0.7305 | likely_pathogenic | 0.712 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/V | 0.7382 | likely_pathogenic | 0.7172 | pathogenic | 0.109 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.64032943 | None | None | N |
| D/W | 0.9816 | likely_pathogenic | 0.981 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/Y | 0.6468 | likely_pathogenic | 0.6307 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.583099054 | 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.