Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17786 | 53581;53582;53583 | chr2:178607246;178607245;178607244 | chr2:179471973;179471972;179471971 |
| N2AB | 16145 | 48658;48659;48660 | chr2:178607246;178607245;178607244 | chr2:179471973;179471972;179471971 |
| N2A | 15218 | 45877;45878;45879 | chr2:178607246;178607245;178607244 | chr2:179471973;179471972;179471971 |
| N2B | 8721 | 26386;26387;26388 | chr2:178607246;178607245;178607244 | chr2:179471973;179471972;179471971 |
| Novex-1 | 8846 | 26761;26762;26763 | chr2:178607246;178607245;178607244 | chr2:179471973;179471972;179471971 |
| Novex-2 | 8913 | 26962;26963;26964 | chr2:178607246;178607245;178607244 | chr2:179471973;179471972;179471971 |
| 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/C | rs1060500485  |
-0.292 | 0.999 | N | 0.674 | 0.35 | 0.374434639691 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/C | rs1060500485 |
-0.292 | 0.999 | N | 0.674 | 0.35 | 0.374434639691 | gnomAD-4.0.0 | 3.42279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.8006E-05 | 0 |
| S/Y | rs1060500485 |
-0.335 | 0.997 | N | 0.735 | 0.364 | 0.465381546717 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| S/Y | rs1060500485 |
-0.335 | 0.997 | N | 0.735 | 0.364 | 0.465381546717 | gnomAD-4.0.0 | 9.58382E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25971E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1352 | likely_benign | 0.1203 | benign | -0.685 | Destabilizing | 0.863 | D | 0.535 | neutral | N | 0.469151633 | None | None | N |
| S/C | 0.2119 | likely_benign | 0.1905 | benign | -0.427 | Destabilizing | 0.999 | D | 0.674 | neutral | N | 0.513827917 | None | None | N |
| S/D | 0.55 | ambiguous | 0.4939 | ambiguous | -0.317 | Destabilizing | 0.026 | N | 0.255 | neutral | None | None | None | None | N |
| S/E | 0.687 | likely_pathogenic | 0.6319 | pathogenic | -0.267 | Destabilizing | 0.91 | D | 0.505 | neutral | None | None | None | None | N |
| S/F | 0.6502 | likely_pathogenic | 0.5603 | ambiguous | -0.718 | Destabilizing | 0.997 | D | 0.733 | prob.delet. | N | 0.477399627 | None | None | N |
| S/G | 0.1633 | likely_benign | 0.1467 | benign | -0.992 | Destabilizing | 0.953 | D | 0.52 | neutral | None | None | None | None | N |
| S/H | 0.6214 | likely_pathogenic | 0.5757 | pathogenic | -1.437 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| S/I | 0.5281 | ambiguous | 0.4259 | ambiguous | 0.039 | Stabilizing | 0.993 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/K | 0.8549 | likely_pathogenic | 0.8079 | pathogenic | -0.612 | Destabilizing | 0.953 | D | 0.567 | neutral | None | None | None | None | N |
| S/L | 0.253 | likely_benign | 0.2067 | benign | 0.039 | Stabilizing | 0.993 | D | 0.649 | neutral | None | None | None | None | N |
| S/M | 0.3512 | ambiguous | 0.3143 | benign | 0.163 | Stabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| S/N | 0.2616 | likely_benign | 0.2149 | benign | -0.732 | Destabilizing | 0.91 | D | 0.511 | neutral | None | None | None | None | N |
| S/P | 0.971 | likely_pathogenic | 0.948 | pathogenic | -0.166 | Destabilizing | 0.991 | D | 0.679 | prob.neutral | D | 0.526141067 | None | None | N |
| S/Q | 0.6713 | likely_pathogenic | 0.6407 | pathogenic | -0.742 | Destabilizing | 0.993 | D | 0.627 | neutral | None | None | None | None | N |
| S/R | 0.8293 | likely_pathogenic | 0.7591 | pathogenic | -0.642 | Destabilizing | 0.993 | D | 0.69 | prob.neutral | None | None | None | None | N |
| S/T | 0.1689 | likely_benign | 0.1409 | benign | -0.661 | Destabilizing | 0.939 | D | 0.497 | neutral | N | 0.460337362 | None | None | N |
| S/V | 0.4894 | ambiguous | 0.4019 | ambiguous | -0.166 | Destabilizing | 0.993 | D | 0.667 | neutral | None | None | None | None | N |
| S/W | 0.7236 | likely_pathogenic | 0.6659 | pathogenic | -0.779 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/Y | 0.5468 | ambiguous | 0.4629 | ambiguous | -0.465 | Destabilizing | 0.997 | D | 0.735 | prob.delet. | N | 0.521465966 | 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.