Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18489 | 55690;55691;55692 | chr2:178601532;178601531;178601530 | chr2:179466259;179466258;179466257 |
| N2AB | 16848 | 50767;50768;50769 | chr2:178601532;178601531;178601530 | chr2:179466259;179466258;179466257 |
| N2A | 15921 | 47986;47987;47988 | chr2:178601532;178601531;178601530 | chr2:179466259;179466258;179466257 |
| N2B | 9424 | 28495;28496;28497 | chr2:178601532;178601531;178601530 | chr2:179466259;179466258;179466257 |
| Novex-1 | 9549 | 28870;28871;28872 | chr2:178601532;178601531;178601530 | chr2:179466259;179466258;179466257 |
| Novex-2 | 9616 | 29071;29072;29073 | chr2:178601532;178601531;178601530 | chr2:179466259;179466258;179466257 |
| 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/I | rs968408582  |
0.129 | 0.976 | N | 0.503 | 0.34 | 0.599286835281 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| S/I | rs968408582 |
0.129 | 0.976 | N | 0.503 | 0.34 | 0.599286835281 | gnomAD-4.0.0 | 3.18845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72787E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1088 | likely_benign | 0.1185 | benign | -0.537 | Destabilizing | 0.733 | D | 0.333 | neutral | None | None | None | None | N |
| S/C | 0.1599 | likely_benign | 0.1902 | benign | -0.394 | Destabilizing | 0.999 | D | 0.419 | neutral | N | 0.477844154 | None | None | N |
| S/D | 0.7554 | likely_pathogenic | 0.7308 | pathogenic | 0.01 | Stabilizing | 0.969 | D | 0.383 | neutral | None | None | None | None | N |
| S/E | 0.7705 | likely_pathogenic | 0.7466 | pathogenic | -0.058 | Destabilizing | 0.969 | D | 0.382 | neutral | None | None | None | None | N |
| S/F | 0.3203 | likely_benign | 0.3504 | ambiguous | -0.946 | Destabilizing | 0.997 | D | 0.516 | neutral | None | None | None | None | N |
| S/G | 0.137 | likely_benign | 0.1515 | benign | -0.702 | Destabilizing | 0.015 | N | 0.111 | neutral | N | 0.471905898 | None | None | N |
| S/H | 0.5348 | ambiguous | 0.523 | ambiguous | -1.195 | Destabilizing | 0.999 | D | 0.422 | neutral | None | None | None | None | N |
| S/I | 0.2873 | likely_benign | 0.3292 | benign | -0.223 | Destabilizing | 0.976 | D | 0.503 | neutral | N | 0.512595766 | None | None | N |
| S/K | 0.8629 | likely_pathogenic | 0.8608 | pathogenic | -0.677 | Destabilizing | 0.939 | D | 0.394 | neutral | None | None | None | None | N |
| S/L | 0.1511 | likely_benign | 0.1635 | benign | -0.223 | Destabilizing | 0.939 | D | 0.479 | neutral | None | None | None | None | N |
| S/M | 0.2073 | likely_benign | 0.2272 | benign | 0.052 | Stabilizing | 0.999 | D | 0.423 | neutral | None | None | None | None | N |
| S/N | 0.2481 | likely_benign | 0.2572 | benign | -0.448 | Destabilizing | 0.959 | D | 0.415 | neutral | N | 0.478640621 | None | None | N |
| S/P | 0.9663 | likely_pathogenic | 0.9691 | pathogenic | -0.296 | Destabilizing | 0.997 | D | 0.428 | neutral | None | None | None | None | N |
| S/Q | 0.635 | likely_pathogenic | 0.6356 | pathogenic | -0.684 | Destabilizing | 0.997 | D | 0.461 | neutral | None | None | None | None | N |
| S/R | 0.8357 | likely_pathogenic | 0.8352 | pathogenic | -0.466 | Destabilizing | 0.988 | D | 0.429 | neutral | N | 0.470384961 | None | None | N |
| S/T | 0.0695 | likely_benign | 0.0742 | benign | -0.538 | Destabilizing | 0.061 | N | 0.105 | neutral | N | 0.431593323 | None | None | N |
| S/V | 0.2446 | likely_benign | 0.2815 | benign | -0.296 | Destabilizing | 0.939 | D | 0.475 | neutral | None | None | None | None | N |
| S/W | 0.5662 | likely_pathogenic | 0.5674 | pathogenic | -0.915 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| S/Y | 0.3666 | ambiguous | 0.3863 | ambiguous | -0.664 | Destabilizing | 0.997 | D | 0.507 | 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.