Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23696 | 71311;71312;71313 | chr2:178575046;178575045;178575044 | chr2:179439773;179439772;179439771 |
| N2AB | 22055 | 66388;66389;66390 | chr2:178575046;178575045;178575044 | chr2:179439773;179439772;179439771 |
| N2A | 21128 | 63607;63608;63609 | chr2:178575046;178575045;178575044 | chr2:179439773;179439772;179439771 |
| N2B | 14631 | 44116;44117;44118 | chr2:178575046;178575045;178575044 | chr2:179439773;179439772;179439771 |
| Novex-1 | 14756 | 44491;44492;44493 | chr2:178575046;178575045;178575044 | chr2:179439773;179439772;179439771 |
| Novex-2 | 14823 | 44692;44693;44694 | chr2:178575046;178575045;178575044 | chr2:179439773;179439772;179439771 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1709557922  |
None | 0.996 | N | 0.646 | 0.513 | 0.750170861795 | gnomAD-4.0.0 | 1.59204E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-06 | 0 | 0 |
| C/Y | None | None | 0.996 | N | 0.627 | 0.444 | 0.832717335692 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4097 | ambiguous | 0.4143 | ambiguous | -0.427 | Destabilizing | 0.863 | D | 0.449 | neutral | None | None | None | None | N |
| C/D | 0.993 | likely_pathogenic | 0.9938 | pathogenic | -1.796 | Destabilizing | 0.997 | D | 0.636 | neutral | None | None | None | None | N |
| C/E | 0.9966 | likely_pathogenic | 0.9973 | pathogenic | -1.672 | Destabilizing | 0.997 | D | 0.647 | neutral | None | None | None | None | N |
| C/F | 0.9041 | likely_pathogenic | 0.9127 | pathogenic | -0.592 | Destabilizing | 0.988 | D | 0.605 | neutral | N | 0.516876583 | None | None | N |
| C/G | 0.4539 | ambiguous | 0.4474 | ambiguous | -0.645 | Destabilizing | 0.996 | D | 0.624 | neutral | N | 0.492442286 | None | None | N |
| C/H | 0.9906 | likely_pathogenic | 0.9915 | pathogenic | -1.378 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| C/I | 0.6363 | likely_pathogenic | 0.662 | pathogenic | 0.087 | Stabilizing | 0.079 | N | 0.361 | neutral | None | None | None | None | N |
| C/K | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -0.454 | Destabilizing | 0.997 | D | 0.633 | neutral | None | None | None | None | N |
| C/L | 0.7368 | likely_pathogenic | 0.79 | pathogenic | 0.087 | Stabilizing | 0.579 | D | 0.477 | neutral | None | None | None | None | N |
| C/M | 0.8331 | likely_pathogenic | 0.8556 | pathogenic | 0.418 | Stabilizing | 0.991 | D | 0.597 | neutral | None | None | None | None | N |
| C/N | 0.9497 | likely_pathogenic | 0.9533 | pathogenic | -0.917 | Destabilizing | 0.997 | D | 0.65 | neutral | None | None | None | None | N |
| C/P | 0.9822 | likely_pathogenic | 0.9845 | pathogenic | -0.058 | Destabilizing | 0.997 | D | 0.653 | neutral | None | None | None | None | N |
| C/Q | 0.9918 | likely_pathogenic | 0.9934 | pathogenic | -0.792 | Destabilizing | 0.997 | D | 0.637 | neutral | None | None | None | None | N |
| C/R | 0.9874 | likely_pathogenic | 0.9898 | pathogenic | -0.735 | Destabilizing | 0.996 | D | 0.646 | neutral | N | 0.5172233 | None | None | N |
| C/S | 0.4536 | ambiguous | 0.4468 | ambiguous | -0.896 | Destabilizing | 0.986 | D | 0.532 | neutral | N | 0.415963015 | None | None | N |
| C/T | 0.472 | ambiguous | 0.4884 | ambiguous | -0.649 | Destabilizing | 0.969 | D | 0.518 | neutral | None | None | None | None | N |
| C/V | 0.4389 | ambiguous | 0.4653 | ambiguous | -0.058 | Destabilizing | 0.579 | D | 0.474 | neutral | None | None | None | None | N |
| C/W | 0.9853 | likely_pathogenic | 0.9878 | pathogenic | -1.17 | Destabilizing | 0.999 | D | 0.561 | neutral | N | 0.481996253 | None | None | N |
| C/Y | 0.9663 | likely_pathogenic | 0.9711 | pathogenic | -0.685 | Destabilizing | 0.996 | D | 0.627 | neutral | N | 0.481742764 | 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.