Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24390 | 73393;73394;73395 | chr2:178572964;178572963;178572962 | chr2:179437691;179437690;179437689 |
| N2AB | 22749 | 68470;68471;68472 | chr2:178572964;178572963;178572962 | chr2:179437691;179437690;179437689 |
| N2A | 21822 | 65689;65690;65691 | chr2:178572964;178572963;178572962 | chr2:179437691;179437690;179437689 |
| N2B | 15325 | 46198;46199;46200 | chr2:178572964;178572963;178572962 | chr2:179437691;179437690;179437689 |
| Novex-1 | 15450 | 46573;46574;46575 | chr2:178572964;178572963;178572962 | chr2:179437691;179437690;179437689 |
| Novex-2 | 15517 | 46774;46775;46776 | chr2:178572964;178572963;178572962 | chr2:179437691;179437690;179437689 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs182491843  |
-1.169 | 0.005 | N | 0.21 | 0.033 | None | gnomAD-2.1.1 | 6.23866E-04 | None | None | None | None | N | None | 6.53649E-03 | 3.97276E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.86E-06 | 1.41084E-04 |
| T/A | rs182491843 |
-1.169 | 0.005 | N | 0.21 | 0.033 | None | gnomAD-3.1.2 | 1.86709E-03 | None | None | None | None | N | None | 6.48975E-03 | 7.20272E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.91205E-03 |
| T/A | rs182491843 |
-1.169 | 0.005 | N | 0.21 | 0.033 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/A | rs182491843 |
-1.169 | 0.005 | N | 0.21 | 0.033 | None | gnomAD-4.0.0 | 3.60152E-04 | None | None | None | None | N | None | 6.85151E-03 | 5.16908E-04 | None | 0 | 0 | None | 0 | 3.3036E-04 | 8.47801E-07 | 2.1965E-05 | 4.96508E-04 |
| T/K | rs1060500583 |
None | None | N | 0.091 | 0.101 | 0.0401082797425 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0695 | likely_benign | 0.0712 | benign | -0.893 | Destabilizing | 0.005 | N | 0.21 | neutral | N | 0.481694069 | None | None | N |
| T/C | 0.2922 | likely_benign | 0.2813 | benign | -0.515 | Destabilizing | 0.356 | N | 0.357 | neutral | None | None | None | None | N |
| T/D | 0.2513 | likely_benign | 0.2441 | benign | 0.188 | Stabilizing | 0.072 | N | 0.371 | neutral | None | None | None | None | N |
| T/E | 0.1236 | likely_benign | 0.1257 | benign | 0.161 | Stabilizing | 0.016 | N | 0.325 | neutral | None | None | None | None | N |
| T/F | 0.1774 | likely_benign | 0.1668 | benign | -1.198 | Destabilizing | 0.038 | N | 0.465 | neutral | None | None | None | None | N |
| T/G | 0.1859 | likely_benign | 0.188 | benign | -1.095 | Destabilizing | 0.031 | N | 0.375 | neutral | None | None | None | None | N |
| T/H | 0.1359 | likely_benign | 0.1357 | benign | -1.313 | Destabilizing | 0.356 | N | 0.395 | neutral | None | None | None | None | N |
| T/I | 0.0664 | likely_benign | 0.0669 | benign | -0.46 | Destabilizing | None | N | 0.081 | neutral | N | 0.424744708 | None | None | N |
| T/K | 0.0587 | likely_benign | 0.0639 | benign | -0.56 | Destabilizing | None | N | 0.091 | neutral | N | 0.39009063 | None | None | N |
| T/L | 0.0586 | likely_benign | 0.0564 | benign | -0.46 | Destabilizing | None | N | 0.082 | neutral | None | None | None | None | N |
| T/M | 0.0654 | likely_benign | 0.0658 | benign | -0.191 | Destabilizing | 0.003 | N | 0.201 | neutral | None | None | None | None | N |
| T/N | 0.0964 | likely_benign | 0.0953 | benign | -0.46 | Destabilizing | 0.072 | N | 0.187 | neutral | None | None | None | None | N |
| T/P | 0.1348 | likely_benign | 0.1208 | benign | -0.575 | Destabilizing | 0.106 | N | 0.404 | neutral | N | 0.504013569 | None | None | N |
| T/Q | 0.0919 | likely_benign | 0.0946 | benign | -0.633 | Destabilizing | 0.038 | N | 0.417 | neutral | None | None | None | None | N |
| T/R | 0.065 | likely_benign | 0.0677 | benign | -0.298 | Destabilizing | 0.029 | N | 0.344 | neutral | N | 0.445213194 | None | None | N |
| T/S | 0.0975 | likely_benign | 0.0959 | benign | -0.786 | Destabilizing | 0.012 | N | 0.219 | neutral | N | 0.463647026 | None | None | N |
| T/V | 0.067 | likely_benign | 0.0661 | benign | -0.575 | Destabilizing | None | N | 0.056 | neutral | None | None | None | None | N |
| T/W | 0.4252 | ambiguous | 0.4273 | ambiguous | -1.107 | Destabilizing | 0.864 | D | 0.381 | neutral | None | None | None | None | N |
| T/Y | 0.2185 | likely_benign | 0.2191 | benign | -0.87 | Destabilizing | 0.356 | N | 0.469 | neutral | 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.