Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2803 | 8632;8633;8634 | chr2:178770294;178770293;178770292 | chr2:179635021;179635020;179635019 |
| N2AB | 2803 | 8632;8633;8634 | chr2:178770294;178770293;178770292 | chr2:179635021;179635020;179635019 |
| N2A | 2803 | 8632;8633;8634 | chr2:178770294;178770293;178770292 | chr2:179635021;179635020;179635019 |
| N2B | 2757 | 8494;8495;8496 | chr2:178770294;178770293;178770292 | chr2:179635021;179635020;179635019 |
| Novex-1 | 2757 | 8494;8495;8496 | chr2:178770294;178770293;178770292 | chr2:179635021;179635020;179635019 |
| Novex-2 | 2757 | 8494;8495;8496 | chr2:178770294;178770293;178770292 | chr2:179635021;179635020;179635019 |
| Novex-3 | 2803 | 8632;8633;8634 | chr2:178770294;178770293;178770292 | chr2:179635021;179635020;179635019 |
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/N | rs1457989871  |
-0.512 | 1.0 | N | 0.607 | 0.346 | 0.195762928549 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| D/N | rs1457989871 |
-0.512 | 1.0 | N | 0.607 | 0.346 | 0.195762928549 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.8883 | likely_pathogenic | 0.8958 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.583876747 | None | None | N |
| D/C | 0.9905 | likely_pathogenic | 0.9935 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| D/E | 0.8153 | likely_pathogenic | 0.8328 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.423 | neutral | D | 0.564653255 | None | None | N |
| D/F | 0.9941 | likely_pathogenic | 0.9929 | pathogenic | 0.423 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/G | 0.8809 | likely_pathogenic | 0.8954 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.581838316 | None | None | N |
| D/H | 0.9649 | likely_pathogenic | 0.9668 | pathogenic | 0.472 | Stabilizing | 1.0 | D | 0.633 | neutral | D | 0.647126966 | None | None | N |
| D/I | 0.9854 | likely_pathogenic | 0.9832 | pathogenic | 0.618 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/K | 0.9926 | likely_pathogenic | 0.9907 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/L | 0.9841 | likely_pathogenic | 0.9818 | pathogenic | 0.618 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/M | 0.993 | likely_pathogenic | 0.9926 | pathogenic | 0.727 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| D/N | 0.4672 | ambiguous | 0.493 | ambiguous | -0.584 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.455953613 | None | None | N |
| D/P | 0.9774 | likely_pathogenic | 0.9808 | pathogenic | 0.348 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/Q | 0.9873 | likely_pathogenic | 0.9871 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| D/R | 0.9936 | likely_pathogenic | 0.9926 | pathogenic | 0.419 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/S | 0.7733 | likely_pathogenic | 0.801 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| D/T | 0.944 | likely_pathogenic | 0.9471 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/V | 0.9564 | likely_pathogenic | 0.9505 | pathogenic | 0.348 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.583876747 | None | None | N |
| D/W | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | 0.688 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| D/Y | 0.9426 | likely_pathogenic | 0.9336 | pathogenic | 0.708 | Stabilizing | 1.0 | D | 0.662 | neutral | D | 0.647126966 | 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.