Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25843 | 77752;77753;77754 | chr2:178568605;178568604;178568603 | chr2:179433332;179433331;179433330 |
| N2AB | 24202 | 72829;72830;72831 | chr2:178568605;178568604;178568603 | chr2:179433332;179433331;179433330 |
| N2A | 23275 | 70048;70049;70050 | chr2:178568605;178568604;178568603 | chr2:179433332;179433331;179433330 |
| N2B | 16778 | 50557;50558;50559 | chr2:178568605;178568604;178568603 | chr2:179433332;179433331;179433330 |
| Novex-1 | 16903 | 50932;50933;50934 | chr2:178568605;178568604;178568603 | chr2:179433332;179433331;179433330 |
| Novex-2 | 16970 | 51133;51134;51135 | chr2:178568605;178568604;178568603 | chr2:179433332;179433331;179433330 |
| 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 | rs773999364  |
-1.579 | 0.892 | N | 0.475 | 0.252 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs773999364 |
-1.579 | 0.892 | N | 0.475 | 0.252 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs773999364 |
-1.579 | 0.892 | N | 0.475 | 0.252 | None | gnomAD-4.0.0 | 2.47933E-06 | None | None | None | None | N | None | 4.00598E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47777E-07 | 0 | 0 |
| R/K | rs1706876007 |
None | 0.025 | N | 0.203 | 0.255 | 0.26169431596 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/K | rs1706876007 |
None | 0.025 | N | 0.203 | 0.255 | 0.26169431596 | gnomAD-4.0.0 | 1.85959E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54336E-06 | 0 | 0 |
| R/S | rs2154167135 |
None | 0.892 | N | 0.483 | 0.256 | 0.332133492242 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| R/T | None | None | 0.967 | N | 0.478 | 0.434 | 0.426436156839 | gnomAD-4.0.0 | 1.16339E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52936E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9407 | likely_pathogenic | 0.9606 | pathogenic | -0.984 | Destabilizing | 0.845 | D | 0.383 | neutral | None | None | None | None | N |
| R/C | 0.6621 | likely_pathogenic | 0.7133 | pathogenic | -0.934 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| R/D | 0.9696 | likely_pathogenic | 0.9774 | pathogenic | -0.089 | Destabilizing | 0.975 | D | 0.509 | neutral | None | None | None | None | N |
| R/E | 0.9107 | likely_pathogenic | 0.9275 | pathogenic | 0.035 | Stabilizing | 0.845 | D | 0.391 | neutral | None | None | None | None | N |
| R/F | 0.973 | likely_pathogenic | 0.9805 | pathogenic | -0.871 | Destabilizing | 0.996 | D | 0.617 | neutral | None | None | None | None | N |
| R/G | 0.8917 | likely_pathogenic | 0.9276 | pathogenic | -1.291 | Destabilizing | 0.892 | D | 0.475 | neutral | N | 0.481045433 | None | None | N |
| R/H | 0.3387 | likely_benign | 0.3877 | ambiguous | -1.528 | Destabilizing | 0.987 | D | 0.499 | neutral | None | None | None | None | N |
| R/I | 0.9248 | likely_pathogenic | 0.9378 | pathogenic | -0.157 | Destabilizing | 0.983 | D | 0.619 | neutral | N | 0.519913743 | None | None | N |
| R/K | 0.4733 | ambiguous | 0.5046 | ambiguous | -0.936 | Destabilizing | 0.025 | N | 0.203 | neutral | N | 0.476117455 | None | None | N |
| R/L | 0.8828 | likely_pathogenic | 0.9073 | pathogenic | -0.157 | Destabilizing | 0.916 | D | 0.475 | neutral | None | None | None | None | N |
| R/M | 0.9211 | likely_pathogenic | 0.9408 | pathogenic | -0.427 | Destabilizing | 0.999 | D | 0.477 | neutral | None | None | None | None | N |
| R/N | 0.9302 | likely_pathogenic | 0.9467 | pathogenic | -0.398 | Destabilizing | 0.975 | D | 0.489 | neutral | None | None | None | None | N |
| R/P | 0.987 | likely_pathogenic | 0.9934 | pathogenic | -0.412 | Destabilizing | 0.987 | D | 0.518 | neutral | None | None | None | None | N |
| R/Q | 0.4212 | ambiguous | 0.471 | ambiguous | -0.589 | Destabilizing | 0.975 | D | 0.496 | neutral | None | None | None | None | N |
| R/S | 0.9447 | likely_pathogenic | 0.9626 | pathogenic | -1.246 | Destabilizing | 0.892 | D | 0.483 | neutral | N | 0.482451012 | None | None | N |
| R/T | 0.8984 | likely_pathogenic | 0.9304 | pathogenic | -0.936 | Destabilizing | 0.967 | D | 0.478 | neutral | N | 0.505163623 | None | None | N |
| R/V | 0.9445 | likely_pathogenic | 0.9538 | pathogenic | -0.412 | Destabilizing | 0.975 | D | 0.613 | neutral | None | None | None | None | N |
| R/W | 0.6969 | likely_pathogenic | 0.7473 | pathogenic | -0.496 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| R/Y | 0.8739 | likely_pathogenic | 0.9014 | pathogenic | -0.206 | Destabilizing | 0.996 | D | 0.522 | 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.