Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16789 | 50590;50591;50592 | chr2:178611944;178611943;178611942 | chr2:179476671;179476670;179476669 |
| N2AB | 15148 | 45667;45668;45669 | chr2:178611944;178611943;178611942 | chr2:179476671;179476670;179476669 |
| N2A | 14221 | 42886;42887;42888 | chr2:178611944;178611943;178611942 | chr2:179476671;179476670;179476669 |
| N2B | 7724 | 23395;23396;23397 | chr2:178611944;178611943;178611942 | chr2:179476671;179476670;179476669 |
| Novex-1 | 7849 | 23770;23771;23772 | chr2:178611944;178611943;178611942 | chr2:179476671;179476670;179476669 |
| Novex-2 | 7916 | 23971;23972;23973 | chr2:178611944;178611943;178611942 | chr2:179476671;179476670;179476669 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs762522321  |
-1.738 | 0.999 | D | 0.672 | 0.414 | 0.400899426204 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| E/K | rs762522321 |
-1.738 | 0.999 | D | 0.672 | 0.414 | 0.400899426204 | 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 |
| E/K | rs762522321 |
-1.738 | 0.999 | D | 0.672 | 0.414 | 0.400899426204 | gnomAD-4.0.0 | 3.85512E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19297E-06 | 0 | 0 |
| E/Q | rs762522321 |
-1.563 | 1.0 | N | 0.739 | 0.362 | 0.32306181527 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs762522321 |
-1.563 | 1.0 | N | 0.739 | 0.362 | 0.32306181527 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs762522321 |
-1.563 | 1.0 | N | 0.739 | 0.362 | 0.32306181527 | gnomAD-4.0.0 | 6.57981E-06 | None | None | None | None | N | None | 2.41394E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9351 | likely_pathogenic | 0.9441 | pathogenic | -1.996 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | D | 0.706789136 | None | None | N |
| E/C | 0.9943 | likely_pathogenic | 0.9936 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/D | 0.9212 | likely_pathogenic | 0.9313 | pathogenic | -1.95 | Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.513071449 | None | None | N |
| E/F | 0.9943 | likely_pathogenic | 0.9936 | pathogenic | -1.641 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| E/G | 0.9481 | likely_pathogenic | 0.9559 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.670877505 | None | None | N |
| E/H | 0.9866 | likely_pathogenic | 0.9855 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/I | 0.979 | likely_pathogenic | 0.9788 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| E/K | 0.9653 | likely_pathogenic | 0.9653 | pathogenic | -2.009 | Highly Destabilizing | 0.999 | D | 0.672 | neutral | D | 0.586337464 | None | None | N |
| E/L | 0.9724 | likely_pathogenic | 0.9759 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| E/M | 0.9814 | likely_pathogenic | 0.9808 | pathogenic | -0.164 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/N | 0.9874 | likely_pathogenic | 0.9881 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| E/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/Q | 0.7776 | likely_pathogenic | 0.7653 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.464496306 | None | None | N |
| E/R | 0.9653 | likely_pathogenic | 0.9649 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| E/S | 0.9516 | likely_pathogenic | 0.9563 | pathogenic | -2.802 | Highly Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/T | 0.9703 | likely_pathogenic | 0.9755 | pathogenic | -2.452 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/V | 0.9441 | likely_pathogenic | 0.9467 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.646717384 | None | None | N |
| E/W | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| E/Y | 0.9929 | likely_pathogenic | 0.9923 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.807 | 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.