Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29885 | 89878;89879;89880 | chr2:178553247;178553246;178553245 | chr2:179417974;179417973;179417972 |
| N2AB | 28244 | 84955;84956;84957 | chr2:178553247;178553246;178553245 | chr2:179417974;179417973;179417972 |
| N2A | 27317 | 82174;82175;82176 | chr2:178553247;178553246;178553245 | chr2:179417974;179417973;179417972 |
| N2B | 20820 | 62683;62684;62685 | chr2:178553247;178553246;178553245 | chr2:179417974;179417973;179417972 |
| Novex-1 | 20945 | 63058;63059;63060 | chr2:178553247;178553246;178553245 | chr2:179417974;179417973;179417972 |
| Novex-2 | 21012 | 63259;63260;63261 | chr2:178553247;178553246;178553245 | chr2:179417974;179417973;179417972 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs368173790  |
-1.712 | 0.645 | N | 0.497 | 0.267 | 0.350964488264 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| R/G | rs368173790 |
-1.712 | 0.645 | N | 0.497 | 0.267 | 0.350964488264 | gnomAD-4.0.0 | 1.59301E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85798E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5422 | ambiguous | 0.5005 | ambiguous | -0.486 | Destabilizing | 0.547 | D | 0.379 | neutral | None | None | None | None | N |
| R/C | 0.2631 | likely_benign | 0.2138 | benign | -0.428 | Destabilizing | 0.995 | D | 0.671 | neutral | None | None | None | None | N |
| R/D | 0.7281 | likely_pathogenic | 0.6982 | pathogenic | -0.009 | Destabilizing | 0.894 | D | 0.57 | neutral | None | None | None | None | N |
| R/E | 0.5158 | ambiguous | 0.4892 | ambiguous | 0.144 | Stabilizing | 0.547 | D | 0.351 | neutral | None | None | None | None | N |
| R/F | 0.7249 | likely_pathogenic | 0.687 | pathogenic | -0.236 | Destabilizing | 0.981 | D | 0.656 | neutral | None | None | None | None | N |
| R/G | 0.4257 | ambiguous | 0.373 | ambiguous | -0.815 | Destabilizing | 0.645 | D | 0.497 | neutral | N | 0.468043287 | None | None | N |
| R/H | 0.1628 | likely_benign | 0.1405 | benign | -1.333 | Destabilizing | 0.945 | D | 0.48 | neutral | None | None | None | None | N |
| R/I | 0.4023 | ambiguous | 0.3747 | ambiguous | 0.397 | Stabilizing | 0.928 | D | 0.657 | neutral | N | 0.513001209 | None | None | N |
| R/K | 0.1591 | likely_benign | 0.1429 | benign | -0.365 | Destabilizing | 0.006 | N | 0.186 | neutral | N | 0.498655316 | None | None | N |
| R/L | 0.392 | ambiguous | 0.3642 | ambiguous | 0.397 | Stabilizing | 0.707 | D | 0.497 | neutral | None | None | None | None | N |
| R/M | 0.4972 | ambiguous | 0.4448 | ambiguous | -0.144 | Destabilizing | 0.995 | D | 0.531 | neutral | None | None | None | None | N |
| R/N | 0.636 | likely_pathogenic | 0.5961 | pathogenic | -0.113 | Destabilizing | 0.894 | D | 0.469 | neutral | None | None | None | None | N |
| R/P | 0.8293 | likely_pathogenic | 0.8238 | pathogenic | 0.125 | Stabilizing | 0.945 | D | 0.576 | neutral | None | None | None | None | N |
| R/Q | 0.1571 | likely_benign | 0.139 | benign | -0.115 | Destabilizing | 0.809 | D | 0.468 | neutral | None | None | None | None | N |
| R/S | 0.6123 | likely_pathogenic | 0.5726 | pathogenic | -0.702 | Destabilizing | 0.477 | N | 0.496 | neutral | N | 0.495617743 | None | None | N |
| R/T | 0.3857 | ambiguous | 0.3581 | ambiguous | -0.351 | Destabilizing | 0.864 | D | 0.514 | neutral | N | 0.497099 | None | None | N |
| R/V | 0.5161 | ambiguous | 0.4812 | ambiguous | 0.125 | Stabilizing | 0.894 | D | 0.639 | neutral | None | None | None | None | N |
| R/W | 0.3759 | ambiguous | 0.3292 | benign | -0.028 | Destabilizing | 0.995 | D | 0.641 | neutral | None | None | None | None | N |
| R/Y | 0.5609 | ambiguous | 0.5047 | ambiguous | 0.283 | Stabilizing | 0.981 | D | 0.595 | 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.