Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17743 | 53452;53453;53454 | chr2:178607461;178607460;178607459 | chr2:179472188;179472187;179472186 |
| N2AB | 16102 | 48529;48530;48531 | chr2:178607461;178607460;178607459 | chr2:179472188;179472187;179472186 |
| N2A | 15175 | 45748;45749;45750 | chr2:178607461;178607460;178607459 | chr2:179472188;179472187;179472186 |
| N2B | 8678 | 26257;26258;26259 | chr2:178607461;178607460;178607459 | chr2:179472188;179472187;179472186 |
| Novex-1 | 8803 | 26632;26633;26634 | chr2:178607461;178607460;178607459 | chr2:179472188;179472187;179472186 |
| Novex-2 | 8870 | 26833;26834;26835 | chr2:178607461;178607460;178607459 | chr2:179472188;179472187;179472186 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | None | None | None | N | 0.149 | 0.038 | 0.0762999501168 | gnomAD-4.0.0 | 6.84428E-07 | None | None | None | None | N | None | 2.99097E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | None | None | 0.019 | N | 0.341 | 0.042 | 0.0806252709748 | gnomAD-4.0.0 | 1.36886E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79942E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4858 | ambiguous | 0.3873 | ambiguous | -1.563 | Destabilizing | 0.081 | N | 0.395 | neutral | N | 0.483144359 | None | None | N |
| V/C | 0.799 | likely_pathogenic | 0.7577 | pathogenic | -1.1 | Destabilizing | 0.958 | D | 0.532 | neutral | None | None | None | None | N |
| V/D | 0.8144 | likely_pathogenic | 0.7386 | pathogenic | -2.0 | Highly Destabilizing | 0.22 | N | 0.603 | neutral | None | None | None | None | N |
| V/E | 0.5849 | likely_pathogenic | 0.4585 | ambiguous | -1.814 | Destabilizing | 0.096 | N | 0.518 | neutral | N | 0.459267422 | None | None | N |
| V/F | 0.3071 | likely_benign | 0.2726 | benign | -0.856 | Destabilizing | 0.331 | N | 0.543 | neutral | None | None | None | None | N |
| V/G | 0.5968 | likely_pathogenic | 0.4856 | ambiguous | -2.063 | Highly Destabilizing | 0.301 | N | 0.548 | neutral | N | 0.47737318 | None | None | N |
| V/H | 0.7917 | likely_pathogenic | 0.6966 | pathogenic | -1.907 | Destabilizing | 0.001 | N | 0.479 | neutral | None | None | None | None | N |
| V/I | 0.0839 | likely_benign | 0.0828 | benign | -0.195 | Destabilizing | None | N | 0.154 | neutral | None | None | None | None | N |
| V/K | 0.638 | likely_pathogenic | 0.4795 | ambiguous | -1.095 | Destabilizing | 0.124 | N | 0.536 | neutral | None | None | None | None | N |
| V/L | 0.3377 | likely_benign | 0.2694 | benign | -0.195 | Destabilizing | None | N | 0.149 | neutral | N | 0.488550179 | None | None | N |
| V/M | 0.2303 | likely_benign | 0.1819 | benign | -0.34 | Destabilizing | 0.019 | N | 0.341 | neutral | N | 0.466521468 | None | None | N |
| V/N | 0.6132 | likely_pathogenic | 0.5083 | ambiguous | -1.309 | Destabilizing | 0.22 | N | 0.616 | neutral | None | None | None | None | N |
| V/P | 0.9899 | likely_pathogenic | 0.9819 | pathogenic | -0.621 | Destabilizing | 0.859 | D | 0.595 | neutral | None | None | None | None | N |
| V/Q | 0.5338 | ambiguous | 0.4069 | ambiguous | -1.191 | Destabilizing | 0.011 | N | 0.389 | neutral | None | None | None | None | N |
| V/R | 0.5706 | likely_pathogenic | 0.4026 | ambiguous | -1.016 | Destabilizing | 0.22 | N | 0.618 | neutral | None | None | None | None | N |
| V/S | 0.5242 | ambiguous | 0.4247 | ambiguous | -1.908 | Destabilizing | 0.22 | N | 0.537 | neutral | None | None | None | None | N |
| V/T | 0.3549 | ambiguous | 0.2742 | benign | -1.586 | Destabilizing | 0.22 | N | 0.42 | neutral | None | None | None | None | N |
| V/W | 0.916 | likely_pathogenic | 0.8829 | pathogenic | -1.375 | Destabilizing | 0.958 | D | 0.626 | neutral | None | None | None | None | N |
| V/Y | 0.7113 | likely_pathogenic | 0.6465 | pathogenic | -0.933 | Destabilizing | 0.497 | N | 0.545 | 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.