Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2720 | 8383;8384;8385 | chr2:178770634;178770633;178770632 | chr2:179635361;179635360;179635359 |
| N2AB | 2720 | 8383;8384;8385 | chr2:178770634;178770633;178770632 | chr2:179635361;179635360;179635359 |
| N2A | 2720 | 8383;8384;8385 | chr2:178770634;178770633;178770632 | chr2:179635361;179635360;179635359 |
| N2B | 2674 | 8245;8246;8247 | chr2:178770634;178770633;178770632 | chr2:179635361;179635360;179635359 |
| Novex-1 | 2674 | 8245;8246;8247 | chr2:178770634;178770633;178770632 | chr2:179635361;179635360;179635359 |
| Novex-2 | 2674 | 8245;8246;8247 | chr2:178770634;178770633;178770632 | chr2:179635361;179635360;179635359 |
| Novex-3 | 2720 | 8383;8384;8385 | chr2:178770634;178770633;178770632 | chr2:179635361;179635360;179635359 |
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/G | rs755264814  |
-0.736 | 1.0 | D | 0.639 | 0.792 | 0.712347878007 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/G | rs755264814 |
-0.736 | 1.0 | D | 0.639 | 0.792 | 0.712347878007 | gnomAD-4.0.0 | 4.78915E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.11538E-05 | 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 | 0.4809 | ambiguous | 0.6236 | pathogenic | -0.184 | Destabilizing | 0.999 | D | 0.58 | neutral | N | 0.507433081 | None | None | I |
| E/C | 0.9919 | likely_pathogenic | 0.9956 | pathogenic | 0.131 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| E/D | 0.7308 | likely_pathogenic | 0.8468 | pathogenic | -0.215 | Destabilizing | 0.999 | D | 0.455 | neutral | D | 0.620343991 | None | None | I |
| E/F | 0.9926 | likely_pathogenic | 0.997 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| E/G | 0.5887 | likely_pathogenic | 0.7423 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.639 | neutral | D | 0.683839281 | None | None | I |
| E/H | 0.9602 | likely_pathogenic | 0.9802 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| E/I | 0.9083 | likely_pathogenic | 0.9454 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| E/K | 0.6132 | likely_pathogenic | 0.7507 | pathogenic | 0.551 | Stabilizing | 0.999 | D | 0.602 | neutral | D | 0.553178645 | None | None | I |
| E/L | 0.9379 | likely_pathogenic | 0.9718 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| E/M | 0.9163 | likely_pathogenic | 0.9554 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| E/N | 0.8612 | likely_pathogenic | 0.9327 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| E/P | 0.9399 | likely_pathogenic | 0.9621 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
| E/Q | 0.4278 | ambiguous | 0.5474 | ambiguous | 0.315 | Stabilizing | 1.0 | D | 0.623 | neutral | D | 0.548951086 | None | None | I |
| E/R | 0.8104 | likely_pathogenic | 0.886 | pathogenic | 0.668 | Stabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| E/S | 0.695 | likely_pathogenic | 0.8089 | pathogenic | 0.154 | Stabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | I |
| E/T | 0.8112 | likely_pathogenic | 0.889 | pathogenic | 0.286 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| E/V | 0.7743 | likely_pathogenic | 0.8442 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.611779252 | None | None | I |
| E/W | 0.9986 | likely_pathogenic | 0.9993 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| E/Y | 0.9875 | likely_pathogenic | 0.9947 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | 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.