Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2769 | 8530;8531;8532 | chr2:178770487;178770486;178770485 | chr2:179635214;179635213;179635212 |
| N2AB | 2769 | 8530;8531;8532 | chr2:178770487;178770486;178770485 | chr2:179635214;179635213;179635212 |
| N2A | 2769 | 8530;8531;8532 | chr2:178770487;178770486;178770485 | chr2:179635214;179635213;179635212 |
| N2B | 2723 | 8392;8393;8394 | chr2:178770487;178770486;178770485 | chr2:179635214;179635213;179635212 |
| Novex-1 | 2723 | 8392;8393;8394 | chr2:178770487;178770486;178770485 | chr2:179635214;179635213;179635212 |
| Novex-2 | 2723 | 8392;8393;8394 | chr2:178770487;178770486;178770485 | chr2:179635214;179635213;179635212 |
| Novex-3 | 2769 | 8530;8531;8532 | chr2:178770487;178770486;178770485 | chr2:179635214;179635213;179635212 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1313199971  |
-1.053 | 0.98 | D | 0.642 | 0.671 | 0.849388039696 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/G | rs1313199971 |
-1.053 | 0.98 | D | 0.642 | 0.671 | 0.849388039696 | 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 |
| C/G | rs1313199971 |
-1.053 | 0.98 | D | 0.642 | 0.671 | 0.849388039696 | gnomAD-4.0.0 | 3.71733E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08465E-06 | 0 | 0 |
| C/R | None | None | 0.997 | D | 0.711 | 0.685 | 0.848577320525 | gnomAD-4.0.0 | 6.84068E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99292E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5986 | likely_pathogenic | 0.6465 | pathogenic | -0.126 | Destabilizing | 0.931 | D | 0.407 | neutral | None | None | None | None | N |
| C/D | 0.996 | likely_pathogenic | 0.9972 | pathogenic | -1.333 | Destabilizing | 0.996 | D | 0.697 | prob.neutral | None | None | None | None | N |
| C/E | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -1.269 | Destabilizing | 0.996 | D | 0.697 | prob.neutral | None | None | None | None | N |
| C/F | 0.944 | likely_pathogenic | 0.9593 | pathogenic | -0.472 | Destabilizing | 0.999 | D | 0.665 | neutral | D | 0.639098259 | None | None | N |
| C/G | 0.6567 | likely_pathogenic | 0.7361 | pathogenic | -0.32 | Destabilizing | 0.98 | D | 0.642 | neutral | D | 0.639760322 | None | None | N |
| C/H | 0.9934 | likely_pathogenic | 0.9946 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| C/I | 0.7843 | likely_pathogenic | 0.8355 | pathogenic | 0.306 | Stabilizing | 0.998 | D | 0.653 | neutral | None | None | None | None | N |
| C/K | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -0.007 | Destabilizing | 0.996 | D | 0.699 | prob.neutral | None | None | None | None | N |
| C/L | 0.8105 | likely_pathogenic | 0.8483 | pathogenic | 0.306 | Stabilizing | 0.993 | D | 0.545 | neutral | None | None | None | None | N |
| C/M | 0.9454 | likely_pathogenic | 0.9576 | pathogenic | 0.81 | Stabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| C/N | 0.9757 | likely_pathogenic | 0.982 | pathogenic | -0.31 | Destabilizing | 0.996 | D | 0.701 | prob.neutral | None | None | None | None | N |
| C/P | 0.9763 | likely_pathogenic | 0.9906 | pathogenic | 0.19 | Stabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| C/Q | 0.9951 | likely_pathogenic | 0.9957 | pathogenic | -0.373 | Destabilizing | 0.998 | D | 0.72 | prob.delet. | None | None | None | None | N |
| C/R | 0.9884 | likely_pathogenic | 0.9895 | pathogenic | -0.165 | Destabilizing | 0.997 | D | 0.711 | prob.delet. | D | 0.639760322 | None | None | N |
| C/S | 0.6929 | likely_pathogenic | 0.7352 | pathogenic | -0.294 | Destabilizing | 0.659 | D | 0.401 | neutral | D | 0.531733103 | None | None | N |
| C/T | 0.7297 | likely_pathogenic | 0.7133 | pathogenic | -0.112 | Destabilizing | 0.971 | D | 0.579 | neutral | None | None | None | None | N |
| C/V | 0.5587 | ambiguous | 0.5762 | pathogenic | 0.19 | Stabilizing | 0.993 | D | 0.601 | neutral | None | None | None | None | N |
| C/W | 0.9935 | likely_pathogenic | 0.9954 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.648 | neutral | D | 0.640942256 | None | None | N |
| C/Y | 0.9844 | likely_pathogenic | 0.9905 | pathogenic | -0.441 | Destabilizing | 0.999 | D | 0.669 | neutral | D | 0.639760322 | 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.