Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1791 | 5596;5597;5598 | chr2:178776493;178776492;178776491 | chr2:179641220;179641219;179641218 |
| N2AB | 1791 | 5596;5597;5598 | chr2:178776493;178776492;178776491 | chr2:179641220;179641219;179641218 |
| N2A | 1791 | 5596;5597;5598 | chr2:178776493;178776492;178776491 | chr2:179641220;179641219;179641218 |
| N2B | 1745 | 5458;5459;5460 | chr2:178776493;178776492;178776491 | chr2:179641220;179641219;179641218 |
| Novex-1 | 1745 | 5458;5459;5460 | chr2:178776493;178776492;178776491 | chr2:179641220;179641219;179641218 |
| Novex-2 | 1745 | 5458;5459;5460 | chr2:178776493;178776492;178776491 | chr2:179641220;179641219;179641218 |
| Novex-3 | 1791 | 5596;5597;5598 | chr2:178776493;178776492;178776491 | chr2:179641220;179641219;179641218 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1393058360  |
None | 1.0 | D | 0.825 | 0.561 | 0.603952565061 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1393058360 |
None | 1.0 | D | 0.825 | 0.561 | 0.603952565061 | gnomAD-4.0.0 | 6.57307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1968 | likely_benign | 0.2044 | benign | -1.01 | Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.557884421 | None | None | N |
| T/C | 0.8287 | likely_pathogenic | 0.8015 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/D | 0.9161 | likely_pathogenic | 0.9212 | pathogenic | 0.376 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| T/E | 0.852 | likely_pathogenic | 0.8618 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| T/F | 0.7632 | likely_pathogenic | 0.7698 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| T/G | 0.7017 | likely_pathogenic | 0.698 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| T/H | 0.702 | likely_pathogenic | 0.7006 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| T/I | 0.5449 | ambiguous | 0.5696 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.625918946 | None | None | N |
| T/K | 0.7361 | likely_pathogenic | 0.7639 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| T/L | 0.3276 | likely_benign | 0.3374 | benign | -0.404 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/M | 0.2473 | likely_benign | 0.2517 | benign | -0.195 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/N | 0.4498 | ambiguous | 0.4871 | ambiguous | -0.386 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.51336323 | None | None | N |
| T/P | 0.4205 | ambiguous | 0.4753 | ambiguous | -0.575 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.616147075 | None | None | N |
| T/Q | 0.6444 | likely_pathogenic | 0.6613 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| T/R | 0.7023 | likely_pathogenic | 0.714 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| T/S | 0.2497 | likely_benign | 0.2601 | benign | -0.821 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.504141433 | None | None | N |
| T/V | 0.3423 | ambiguous | 0.3562 | ambiguous | -0.575 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| T/W | 0.9473 | likely_pathogenic | 0.9425 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/Y | 0.799 | likely_pathogenic | 0.8015 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.852 | deleterious | 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.