Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 134 | 625;626;627 | chr2:178800578;178800577;178800576 | chr2:179665305;179665304;179665303 |
| N2AB | 134 | 625;626;627 | chr2:178800578;178800577;178800576 | chr2:179665305;179665304;179665303 |
| N2A | 134 | 625;626;627 | chr2:178800578;178800577;178800576 | chr2:179665305;179665304;179665303 |
| N2B | 134 | 625;626;627 | chr2:178800578;178800577;178800576 | chr2:179665305;179665304;179665303 |
| Novex-1 | 134 | 625;626;627 | chr2:178800578;178800577;178800576 | chr2:179665305;179665304;179665303 |
| Novex-2 | 134 | 625;626;627 | chr2:178800578;178800577;178800576 | chr2:179665305;179665304;179665303 |
| Novex-3 | 134 | 625;626;627 | chr2:178800578;178800577;178800576 | chr2:179665305;179665304;179665303 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs754896104  |
-0.78 | 0.993 | N | 0.685 | 0.598 | 0.821069369337 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | -0.727(TCAP) | N | None | 0 | 0 | None | 0 | 1.08885E-04 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs754896104 |
-0.78 | 0.993 | N | 0.685 | 0.598 | 0.821069369337 | gnomAD-4.0.0 | 2.73632E-06 | None | None | None | -0.727(TCAP) | N | None | 0 | 0 | None | 0 | 1.00781E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | None | None | 0.003 | N | 0.189 | 0.247 | 0.245660935333 | gnomAD-4.0.0 | 6.84088E-07 | None | None | None | -0.779(TCAP) | N | None | 0 | 0 | None | 0 | 2.5194E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2247 | likely_benign | 0.2565 | benign | -0.829 | Destabilizing | 0.726 | D | 0.501 | neutral | N | 0.469231344 | None | -0.738(TCAP) | N |
| V/C | 0.9664 | likely_pathogenic | 0.964 | pathogenic | -0.674 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | -0.31(TCAP) | N |
| V/D | 0.5079 | ambiguous | 0.5173 | ambiguous | -0.687 | Destabilizing | 0.993 | D | 0.773 | deleterious | None | None | None | -0.4(TCAP) | N |
| V/E | 0.293 | likely_benign | 0.2974 | benign | -0.755 | Destabilizing | 0.948 | D | 0.711 | prob.delet. | N | 0.391020962 | None | -0.493(TCAP) | N |
| V/F | 0.3361 | likely_benign | 0.3551 | ambiguous | -0.797 | Destabilizing | 0.982 | D | 0.704 | prob.neutral | None | None | None | 0.113(TCAP) | N |
| V/G | 0.4603 | ambiguous | 0.4978 | ambiguous | -1.038 | Destabilizing | 0.993 | D | 0.685 | prob.neutral | N | 0.502938721 | None | -0.727(TCAP) | N |
| V/H | 0.7564 | likely_pathogenic | 0.769 | pathogenic | -0.522 | Destabilizing | 0.999 | D | 0.778 | deleterious | None | None | None | 0.045(TCAP) | N |
| V/I | 0.0917 | likely_benign | 0.0978 | benign | -0.401 | Destabilizing | 0.214 | N | 0.506 | neutral | None | None | None | -0.779(TCAP) | N |
| V/K | 0.4251 | ambiguous | 0.421 | ambiguous | -0.775 | Destabilizing | 0.981 | D | 0.695 | prob.neutral | None | None | None | -0.875(TCAP) | N |
| V/L | 0.2606 | likely_benign | 0.301 | benign | -0.401 | Destabilizing | 0.003 | N | 0.189 | neutral | N | 0.485408281 | None | -0.779(TCAP) | N |
| V/M | 0.174 | likely_benign | 0.1919 | benign | -0.409 | Destabilizing | 0.968 | D | 0.569 | neutral | N | 0.496292013 | None | -0.386(TCAP) | N |
| V/N | 0.3705 | ambiguous | 0.3983 | ambiguous | -0.54 | Destabilizing | 0.886 | D | 0.774 | deleterious | None | None | None | -0.667(TCAP) | N |
| V/P | 0.9273 | likely_pathogenic | 0.9446 | pathogenic | -0.508 | Destabilizing | 0.96 | D | 0.781 | deleterious | None | None | None | -0.763(TCAP) | N |
| V/Q | 0.3555 | ambiguous | 0.3774 | ambiguous | -0.753 | Destabilizing | 0.991 | D | 0.786 | deleterious | None | None | None | -0.585(TCAP) | N |
| V/R | 0.4256 | ambiguous | 0.4292 | ambiguous | -0.212 | Destabilizing | 0.991 | D | 0.774 | deleterious | None | None | None | -0.991(TCAP) | N |
| V/S | 0.2918 | likely_benign | 0.3299 | benign | -0.928 | Destabilizing | 0.81 | D | 0.655 | neutral | None | None | None | -0.476(TCAP) | N |
| V/T | 0.1907 | likely_benign | 0.2138 | benign | -0.891 | Destabilizing | 0.044 | N | 0.166 | neutral | None | None | None | -0.54(TCAP) | N |
| V/W | 0.9531 | likely_pathogenic | 0.9566 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | 0.241(TCAP) | N |
| V/Y | 0.8093 | likely_pathogenic | 0.8142 | pathogenic | -0.629 | Destabilizing | 0.991 | D | 0.699 | prob.neutral | None | None | None | 0.078(TCAP) | 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.