Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3160 | 9703;9704;9705 | chr2:178766606;178766605;178766604 | chr2:179631333;179631332;179631331 |
| N2AB | 3160 | 9703;9704;9705 | chr2:178766606;178766605;178766604 | chr2:179631333;179631332;179631331 |
| N2A | 3160 | 9703;9704;9705 | chr2:178766606;178766605;178766604 | chr2:179631333;179631332;179631331 |
| N2B | 3114 | 9565;9566;9567 | chr2:178766606;178766605;178766604 | chr2:179631333;179631332;179631331 |
| Novex-1 | 3114 | 9565;9566;9567 | chr2:178766606;178766605;178766604 | chr2:179631333;179631332;179631331 |
| Novex-2 | 3114 | 9565;9566;9567 | chr2:178766606;178766605;178766604 | chr2:179631333;179631332;179631331 |
| Novex-3 | 3160 | 9703;9704;9705 | chr2:178766606;178766605;178766604 | chr2:179631333;179631332;179631331 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | 0.999 | N | 0.437 | 0.23 | 0.0954503805726 | gnomAD-4.0.0 | 6.84907E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52321E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs1234344822  |
None | 1.0 | N | 0.667 | 0.449 | 0.241078983079 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/G | rs1234344822 |
None | 1.0 | N | 0.667 | 0.449 | 0.241078983079 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5443 | ambiguous | 0.7221 | pathogenic | -0.775 | Destabilizing | 0.999 | D | 0.61 | neutral | N | 0.32965403 | None | None | N |
| E/C | 0.9822 | likely_pathogenic | 0.9933 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| E/D | 0.58 | likely_pathogenic | 0.8254 | pathogenic | -1.054 | Destabilizing | 0.999 | D | 0.437 | neutral | N | 0.374638894 | None | None | N |
| E/F | 0.9848 | likely_pathogenic | 0.9952 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| E/G | 0.5169 | ambiguous | 0.7834 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.44915043 | None | None | N |
| E/H | 0.9142 | likely_pathogenic | 0.9739 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| E/I | 0.9328 | likely_pathogenic | 0.967 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/K | 0.5923 | likely_pathogenic | 0.8401 | pathogenic | -0.609 | Destabilizing | 0.999 | D | 0.593 | neutral | N | 0.44695046 | None | None | N |
| E/L | 0.8951 | likely_pathogenic | 0.9623 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/M | 0.926 | likely_pathogenic | 0.9719 | pathogenic | 0.479 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/N | 0.8209 | likely_pathogenic | 0.9417 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| E/P | 0.8602 | likely_pathogenic | 0.9598 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/Q | 0.4116 | ambiguous | 0.5705 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.448319344 | None | None | N |
| E/R | 0.7221 | likely_pathogenic | 0.8855 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/S | 0.6513 | likely_pathogenic | 0.8317 | pathogenic | -1.208 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| E/T | 0.7787 | likely_pathogenic | 0.9166 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| E/V | 0.8232 | likely_pathogenic | 0.9072 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.35193168 | None | None | N |
| E/W | 0.9908 | likely_pathogenic | 0.9973 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9672 | likely_pathogenic | 0.9913 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.717 | 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.