Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1510 | 4753;4754;4755 | chr2:178777537;178777536;178777535 | chr2:179642264;179642263;179642262 |
| N2AB | 1510 | 4753;4754;4755 | chr2:178777537;178777536;178777535 | chr2:179642264;179642263;179642262 |
| N2A | 1510 | 4753;4754;4755 | chr2:178777537;178777536;178777535 | chr2:179642264;179642263;179642262 |
| N2B | 1464 | 4615;4616;4617 | chr2:178777537;178777536;178777535 | chr2:179642264;179642263;179642262 |
| Novex-1 | 1464 | 4615;4616;4617 | chr2:178777537;178777536;178777535 | chr2:179642264;179642263;179642262 |
| Novex-2 | 1464 | 4615;4616;4617 | chr2:178777537;178777536;178777535 | chr2:179642264;179642263;179642262 |
| Novex-3 | 1510 | 4753;4754;4755 | chr2:178777537;178777536;178777535 | chr2:179642264;179642263;179642262 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs878911201  |
-0.205 | 1.0 | N | 0.672 | 0.614 | None | gnomAD-2.1.1 | 7.09E-06 | None | None | None | None | I | None | 8.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs878911201 |
-0.205 | 1.0 | N | 0.672 | 0.614 | None | gnomAD-3.1.2 | 3.28E-05 | None | None | None | None | I | None | 1.2061E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs878911201 |
-0.205 | 1.0 | N | 0.672 | 0.614 | None | gnomAD-4.0.0 | 8.67481E-06 | None | None | None | None | I | None | 1.86866E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | None | None | 1.0 | D | 0.632 | 0.551 | 0.596036732933 | gnomAD-4.0.0 | 1.59102E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.76735E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9464 | likely_pathogenic | 0.9606 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.568576285 | None | None | I |
| D/C | 0.9918 | likely_pathogenic | 0.9943 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| D/E | 0.9397 | likely_pathogenic | 0.9524 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.519 | neutral | D | 0.53373053 | None | None | I |
| D/F | 0.9951 | likely_pathogenic | 0.9966 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| D/G | 0.8475 | likely_pathogenic | 0.8829 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.519453412 | None | None | I |
| D/H | 0.9877 | likely_pathogenic | 0.9909 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.632 | neutral | D | 0.63000674 | None | None | I |
| D/I | 0.988 | likely_pathogenic | 0.9915 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| D/K | 0.9922 | likely_pathogenic | 0.9941 | pathogenic | 0.29 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| D/L | 0.9813 | likely_pathogenic | 0.9861 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| D/M | 0.9923 | likely_pathogenic | 0.9946 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| D/N | 0.4947 | ambiguous | 0.5508 | ambiguous | 0.093 | Stabilizing | 1.0 | D | 0.656 | neutral | N | 0.515856652 | None | None | I |
| D/P | 0.9958 | likely_pathogenic | 0.9969 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| D/Q | 0.9905 | likely_pathogenic | 0.9932 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| D/R | 0.992 | likely_pathogenic | 0.9942 | pathogenic | 0.445 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| D/S | 0.8531 | likely_pathogenic | 0.8871 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| D/T | 0.9336 | likely_pathogenic | 0.9503 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| D/V | 0.9625 | likely_pathogenic | 0.9733 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.646203337 | None | None | I |
| D/W | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| D/Y | 0.9541 | likely_pathogenic | 0.9663 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.672 | neutral | D | 0.668923291 | None | None | I |
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.