Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2558 | 7897;7898;7899 | chr2:178773292;178773291;178773290 | chr2:179638019;179638018;179638017 |
| N2AB | 2558 | 7897;7898;7899 | chr2:178773292;178773291;178773290 | chr2:179638019;179638018;179638017 |
| N2A | 2558 | 7897;7898;7899 | chr2:178773292;178773291;178773290 | chr2:179638019;179638018;179638017 |
| N2B | 2512 | 7759;7760;7761 | chr2:178773292;178773291;178773290 | chr2:179638019;179638018;179638017 |
| Novex-1 | 2512 | 7759;7760;7761 | chr2:178773292;178773291;178773290 | chr2:179638019;179638018;179638017 |
| Novex-2 | 2512 | 7759;7760;7761 | chr2:178773292;178773291;178773290 | chr2:179638019;179638018;179638017 |
| Novex-3 | 2558 | 7897;7898;7899 | chr2:178773292;178773291;178773290 | chr2:179638019;179638018;179638017 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs1175796012  |
-0.354 | 1.0 | N | 0.679 | 0.592 | 0.377274123778 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| H/R | rs1175796012 |
-0.354 | 1.0 | N | 0.679 | 0.592 | 0.377274123778 | gnomAD-4.0.0 | 2.05241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69797E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.739 | likely_pathogenic | 0.6557 | pathogenic | -0.304 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| H/C | 0.4223 | ambiguous | 0.3419 | ambiguous | 0.157 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| H/D | 0.6531 | likely_pathogenic | 0.5502 | ambiguous | -0.22 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.501757307 | None | None | N |
| H/E | 0.7093 | likely_pathogenic | 0.6158 | pathogenic | -0.145 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| H/F | 0.6118 | likely_pathogenic | 0.535 | ambiguous | 0.787 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| H/G | 0.802 | likely_pathogenic | 0.7297 | pathogenic | -0.641 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| H/I | 0.7815 | likely_pathogenic | 0.6867 | pathogenic | 0.6 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| H/K | 0.6236 | likely_pathogenic | 0.5473 | ambiguous | -0.296 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| H/L | 0.4467 | ambiguous | 0.3551 | ambiguous | 0.6 | Stabilizing | 1.0 | D | 0.682 | prob.neutral | D | 0.620301113 | None | None | N |
| H/M | 0.8818 | likely_pathogenic | 0.8308 | pathogenic | 0.313 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| H/N | 0.3285 | likely_benign | 0.2611 | benign | -0.473 | Destabilizing | 0.999 | D | 0.58 | neutral | N | 0.506546282 | None | None | N |
| H/P | 0.8377 | likely_pathogenic | 0.7936 | pathogenic | 0.322 | Stabilizing | 1.0 | D | 0.648 | neutral | N | 0.508576448 | None | None | N |
| H/Q | 0.5783 | likely_pathogenic | 0.4924 | ambiguous | -0.266 | Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.579529086 | None | None | N |
| H/R | 0.3144 | likely_benign | 0.2528 | benign | -0.848 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.501025136 | None | None | N |
| H/S | 0.5983 | likely_pathogenic | 0.5074 | ambiguous | -0.478 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| H/T | 0.7355 | likely_pathogenic | 0.6486 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| H/V | 0.6744 | likely_pathogenic | 0.5688 | pathogenic | 0.322 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| H/W | 0.7177 | likely_pathogenic | 0.6528 | pathogenic | 0.999 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| H/Y | 0.2184 | likely_benign | 0.1721 | benign | 1.111 | Stabilizing | 0.999 | D | 0.588 | neutral | D | 0.620427498 | 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.