Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15375 | 46348;46349;46350 | chr2:178620398;178620397;178620396 | chr2:179485125;179485124;179485123 |
| N2AB | 13734 | 41425;41426;41427 | chr2:178620398;178620397;178620396 | chr2:179485125;179485124;179485123 |
| N2A | 12807 | 38644;38645;38646 | chr2:178620398;178620397;178620396 | chr2:179485125;179485124;179485123 |
| N2B | 6310 | 19153;19154;19155 | chr2:178620398;178620397;178620396 | chr2:179485125;179485124;179485123 |
| Novex-1 | 6435 | 19528;19529;19530 | chr2:178620398;178620397;178620396 | chr2:179485125;179485124;179485123 |
| Novex-2 | 6502 | 19729;19730;19731 | chr2:178620398;178620397;178620396 | chr2:179485125;179485124;179485123 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs767265973  |
-1.237 | 1.0 | D | 0.569 | 0.576 | 0.618243236666 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| A/S | rs767265973 |
-1.237 | 1.0 | D | 0.569 | 0.576 | 0.618243236666 | gnomAD-4.0.0 | 1.36969E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80019E-06 | 0 | 0 |
| A/T | rs767265973 |
-1.158 | 1.0 | D | 0.731 | 0.531 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| A/T | rs767265973 |
-1.158 | 1.0 | D | 0.731 | 0.531 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs767265973 |
-1.158 | 1.0 | D | 0.731 | 0.531 | None | gnomAD-4.0.0 | 9.92526E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64853E-04 | 1.10273E-05 | 2.19872E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6434 | likely_pathogenic | 0.6182 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/D | 0.9574 | likely_pathogenic | 0.9378 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.706343677 | None | None | N |
| A/E | 0.9576 | likely_pathogenic | 0.9386 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/F | 0.8824 | likely_pathogenic | 0.8377 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/G | 0.2701 | likely_benign | 0.2561 | benign | -1.346 | Destabilizing | 1.0 | D | 0.563 | neutral | D | 0.707093404 | None | None | N |
| A/H | 0.9702 | likely_pathogenic | 0.9577 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/I | 0.5981 | likely_pathogenic | 0.5826 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/K | 0.9798 | likely_pathogenic | 0.9714 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/L | 0.5927 | likely_pathogenic | 0.5187 | ambiguous | -0.207 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| A/M | 0.7305 | likely_pathogenic | 0.6983 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/N | 0.9277 | likely_pathogenic | 0.8945 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/P | 0.9444 | likely_pathogenic | 0.9339 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.668614643 | None | None | N |
| A/Q | 0.9457 | likely_pathogenic | 0.929 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/R | 0.9534 | likely_pathogenic | 0.9369 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/S | 0.2615 | likely_benign | 0.2386 | benign | -1.603 | Destabilizing | 1.0 | D | 0.569 | neutral | D | 0.616120472 | None | None | N |
| A/T | 0.3336 | likely_benign | 0.2814 | benign | -1.455 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.549008765 | None | None | N |
| A/V | 0.2741 | likely_benign | 0.2609 | benign | -0.431 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.512746539 | None | None | N |
| A/W | 0.9862 | likely_pathogenic | 0.9808 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/Y | 0.9467 | likely_pathogenic | 0.9254 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.867 | deleterious | 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.