Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20177 | 60754;60755;60756 | chr2:178591196;178591195;178591194 | chr2:179455923;179455922;179455921 |
| N2AB | 18536 | 55831;55832;55833 | chr2:178591196;178591195;178591194 | chr2:179455923;179455922;179455921 |
| N2A | 17609 | 53050;53051;53052 | chr2:178591196;178591195;178591194 | chr2:179455923;179455922;179455921 |
| N2B | 11112 | 33559;33560;33561 | chr2:178591196;178591195;178591194 | chr2:179455923;179455922;179455921 |
| Novex-1 | 11237 | 33934;33935;33936 | chr2:178591196;178591195;178591194 | chr2:179455923;179455922;179455921 |
| Novex-2 | 11304 | 34135;34136;34137 | chr2:178591196;178591195;178591194 | chr2:179455923;179455922;179455921 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs878911746  |
None | 1.0 | N | 0.857 | 0.492 | 0.29840395 | gnomAD-4.0.0 | 2.05304E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82848E-05 | 0 | None | 0 | 0 | 1.79923E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4777 | ambiguous | 0.547 | ambiguous | -0.321 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.49357477 | None | None | N |
| G/C | 0.7694 | likely_pathogenic | 0.8631 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.51635164 | None | None | N |
| G/D | 0.898 | likely_pathogenic | 0.9424 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.48334226 | None | None | N |
| G/E | 0.8724 | likely_pathogenic | 0.9335 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/F | 0.9387 | likely_pathogenic | 0.9604 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/H | 0.9516 | likely_pathogenic | 0.9759 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/I | 0.893 | likely_pathogenic | 0.9405 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/K | 0.9313 | likely_pathogenic | 0.9653 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/L | 0.9053 | likely_pathogenic | 0.9289 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/M | 0.9473 | likely_pathogenic | 0.9668 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/N | 0.9181 | likely_pathogenic | 0.9507 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/P | 0.9008 | likely_pathogenic | 0.9003 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/Q | 0.9184 | likely_pathogenic | 0.9598 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/R | 0.8782 | likely_pathogenic | 0.9479 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.47558403 | None | None | N |
| G/S | 0.4468 | ambiguous | 0.5828 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.46577144 | None | None | N |
| G/T | 0.8081 | likely_pathogenic | 0.8829 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/V | 0.8222 | likely_pathogenic | 0.902 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.49875438 | None | None | N |
| G/W | 0.9048 | likely_pathogenic | 0.947 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/Y | 0.9221 | likely_pathogenic | 0.9532 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.768 | deleterious | 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.