Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16640 | 50143;50144;50145 | chr2:178612803;178612802;178612801 | chr2:179477530;179477529;179477528 |
| N2AB | 14999 | 45220;45221;45222 | chr2:178612803;178612802;178612801 | chr2:179477530;179477529;179477528 |
| N2A | 14072 | 42439;42440;42441 | chr2:178612803;178612802;178612801 | chr2:179477530;179477529;179477528 |
| N2B | 7575 | 22948;22949;22950 | chr2:178612803;178612802;178612801 | chr2:179477530;179477529;179477528 |
| Novex-1 | 7700 | 23323;23324;23325 | chr2:178612803;178612802;178612801 | chr2:179477530;179477529;179477528 |
| Novex-2 | 7767 | 23524;23525;23526 | chr2:178612803;178612802;178612801 | chr2:179477530;179477529;179477528 |
| 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/N | rs55663050  |
None | 0.997 | D | 0.633 | 0.37 | 0.508223314113 | gnomAD-4.0.0 | 6.84922E-07 | None | None | None | None | N | None | 2.99419E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs55663050 |
-0.57 | 0.997 | N | 0.599 | 0.233 | None | gnomAD-2.1.1 | 3.43582E-03 | None | None | None | None | N | None | 2.07228E-04 | 7.68618E-04 | None | 1.07046E-03 | 1.04362E-04 | None | 2.17563E-02 | None | 4.01E-05 | 1.77501E-03 | 2.97114E-03 |
| S/T | rs55663050 |
-0.57 | 0.997 | N | 0.599 | 0.233 | None | gnomAD-3.1.2 | 1.79752E-03 | None | None | None | None | N | None | 2.41534E-04 | 1.83872E-03 | 0 | 8.65052E-04 | 0 | None | 0 | 0 | 1.66387E-03 | 2.38986E-02 | 1.91388E-03 |
| S/T | rs55663050 |
-0.57 | 0.997 | N | 0.599 | 0.233 | None | 1000 genomes | 5.99042E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 2E-03 | None | None | None | 2.76E-02 | None |
| S/T | rs55663050 |
-0.57 | 0.997 | N | 0.599 | 0.233 | None | gnomAD-4.0.0 | 2.19912E-03 | None | None | None | None | N | None | 3.20333E-04 | 9.85732E-04 | None | 8.46024E-04 | 1.57226E-04 | None | 6.25469E-05 | 4.13633E-03 | 1.08908E-03 | 2.1267E-02 | 2.94957E-03 |
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 | 0.2692 | likely_benign | 0.2827 | benign | -0.69 | Destabilizing | 0.995 | D | 0.573 | neutral | None | None | None | None | N |
| S/C | 0.3699 | ambiguous | 0.3715 | ambiguous | -0.469 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.693181306 | None | None | N |
| S/D | 0.9768 | likely_pathogenic | 0.9824 | pathogenic | -0.968 | Destabilizing | 0.998 | D | 0.603 | neutral | None | None | None | None | N |
| S/E | 0.9867 | likely_pathogenic | 0.9908 | pathogenic | -0.858 | Destabilizing | 0.998 | D | 0.622 | neutral | None | None | None | None | N |
| S/F | 0.9538 | likely_pathogenic | 0.9687 | pathogenic | -0.557 | Destabilizing | 0.999 | D | 0.918 | deleterious | None | None | None | None | N |
| S/G | 0.3466 | ambiguous | 0.3828 | ambiguous | -1.048 | Destabilizing | 0.997 | D | 0.634 | neutral | D | 0.65306242 | None | None | N |
| S/H | 0.976 | likely_pathogenic | 0.9824 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/I | 0.8475 | likely_pathogenic | 0.8832 | pathogenic | 0.187 | Stabilizing | 0.999 | D | 0.893 | deleterious | D | 0.676596777 | None | None | N |
| S/K | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | -0.618 | Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| S/L | 0.6239 | likely_pathogenic | 0.7087 | pathogenic | 0.187 | Stabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| S/M | 0.7728 | likely_pathogenic | 0.8147 | pathogenic | 0.292 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| S/N | 0.8875 | likely_pathogenic | 0.9102 | pathogenic | -0.965 | Destabilizing | 0.997 | D | 0.633 | neutral | D | 0.728726462 | None | None | N |
| S/P | 0.9601 | likely_pathogenic | 0.9777 | pathogenic | -0.069 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| S/Q | 0.9822 | likely_pathogenic | 0.9873 | pathogenic | -0.872 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| S/R | 0.9947 | likely_pathogenic | 0.9969 | pathogenic | -0.825 | Destabilizing | 0.999 | D | 0.881 | deleterious | D | 0.729309311 | None | None | N |
| S/T | 0.1531 | likely_benign | 0.1574 | benign | -0.739 | Destabilizing | 0.997 | D | 0.599 | neutral | N | 0.51535289 | None | None | N |
| S/V | 0.7108 | likely_pathogenic | 0.7515 | pathogenic | -0.069 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| S/W | 0.9744 | likely_pathogenic | 0.9848 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| S/Y | 0.9617 | likely_pathogenic | 0.9764 | pathogenic | -0.361 | Destabilizing | 0.999 | D | 0.922 | 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.