Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5986 | 18181;18182;18183 | chr2:178730577;178730576;178730575 | chr2:179595304;179595303;179595302 |
| N2AB | 5669 | 17230;17231;17232 | chr2:178730577;178730576;178730575 | chr2:179595304;179595303;179595302 |
| N2A | 4742 | 14449;14450;14451 | chr2:178730577;178730576;178730575 | chr2:179595304;179595303;179595302 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs779199136  |
-0.98 | 0.026 | N | 0.158 | 0.127 | 0.168933306366 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/G | rs779199136 |
-0.98 | 0.026 | N | 0.158 | 0.127 | 0.168933306366 | gnomAD-4.0.0 | 4.1057E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.7971E-05 | 1.65706E-05 |
| S/R | None | None | 0.968 | N | 0.567 | 0.317 | 0.221019684889 | gnomAD-4.0.0 | 1.36857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| S/T | None | None | 0.026 | N | 0.298 | 0.139 | 0.159798565429 | gnomAD-4.0.0 | 1.59167E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0752 | likely_benign | 0.0738 | benign | -0.691 | Destabilizing | 0.702 | D | 0.455 | neutral | None | None | None | None | N |
| S/C | 0.1794 | likely_benign | 0.1541 | benign | -0.511 | Destabilizing | 0.999 | D | 0.576 | neutral | D | 0.53997323 | None | None | N |
| S/D | 0.6003 | likely_pathogenic | 0.5756 | pathogenic | -0.665 | Destabilizing | 0.034 | N | 0.295 | neutral | None | None | None | None | N |
| S/E | 0.6319 | likely_pathogenic | 0.6178 | pathogenic | -0.695 | Destabilizing | 0.851 | D | 0.455 | neutral | None | None | None | None | N |
| S/F | 0.3747 | ambiguous | 0.3595 | ambiguous | -1.099 | Destabilizing | 0.988 | D | 0.647 | neutral | None | None | None | None | N |
| S/G | 0.0892 | likely_benign | 0.0822 | benign | -0.891 | Destabilizing | 0.026 | N | 0.158 | neutral | N | 0.50231535 | None | None | N |
| S/H | 0.5547 | ambiguous | 0.5193 | ambiguous | -1.439 | Destabilizing | 0.999 | D | 0.567 | neutral | None | None | None | None | N |
| S/I | 0.3028 | likely_benign | 0.2728 | benign | -0.269 | Destabilizing | 0.968 | D | 0.63 | neutral | N | 0.505232751 | None | None | N |
| S/K | 0.7314 | likely_pathogenic | 0.7122 | pathogenic | -0.703 | Destabilizing | 0.919 | D | 0.443 | neutral | None | None | None | None | N |
| S/L | 0.1533 | likely_benign | 0.139 | benign | -0.269 | Destabilizing | 0.851 | D | 0.553 | neutral | None | None | None | None | N |
| S/M | 0.2566 | likely_benign | 0.2281 | benign | 0.211 | Stabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| S/N | 0.2304 | likely_benign | 0.2156 | benign | -0.686 | Destabilizing | 0.896 | D | 0.474 | neutral | D | 0.52584557 | None | None | N |
| S/P | 0.8642 | likely_pathogenic | 0.8354 | pathogenic | -0.378 | Destabilizing | 0.988 | D | 0.553 | neutral | None | None | None | None | N |
| S/Q | 0.5992 | likely_pathogenic | 0.5737 | pathogenic | -0.964 | Destabilizing | 0.988 | D | 0.477 | neutral | None | None | None | None | N |
| S/R | 0.6018 | likely_pathogenic | 0.5711 | pathogenic | -0.477 | Destabilizing | 0.968 | D | 0.567 | neutral | N | 0.490887478 | None | None | N |
| S/T | 0.0943 | likely_benign | 0.0883 | benign | -0.694 | Destabilizing | 0.026 | N | 0.298 | neutral | N | 0.472973878 | None | None | N |
| S/V | 0.3002 | likely_benign | 0.277 | benign | -0.378 | Destabilizing | 0.952 | D | 0.563 | neutral | None | None | None | None | N |
| S/W | 0.6268 | likely_pathogenic | 0.5695 | pathogenic | -1.071 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/Y | 0.3826 | ambiguous | 0.3576 | ambiguous | -0.791 | Destabilizing | 0.996 | D | 0.643 | neutral | 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.