Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18321 | 55186;55187;55188 | chr2:178602441;178602440;178602439 | chr2:179467168;179467167;179467166 |
| N2AB | 16680 | 50263;50264;50265 | chr2:178602441;178602440;178602439 | chr2:179467168;179467167;179467166 |
| N2A | 15753 | 47482;47483;47484 | chr2:178602441;178602440;178602439 | chr2:179467168;179467167;179467166 |
| N2B | 9256 | 27991;27992;27993 | chr2:178602441;178602440;178602439 | chr2:179467168;179467167;179467166 |
| Novex-1 | 9381 | 28366;28367;28368 | chr2:178602441;178602440;178602439 | chr2:179467168;179467167;179467166 |
| Novex-2 | 9448 | 28567;28568;28569 | chr2:178602441;178602440;178602439 | chr2:179467168;179467167;179467166 |
| 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 | None | None | 0.012 | N | 0.44 | 0.088 | 0.298745278005 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| R/K | rs750609591  |
-1.013 | None | N | 0.167 | 0.123 | 0.0138822411134 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| R/K | rs750609591 |
-1.013 | None | N | 0.167 | 0.123 | 0.0138822411134 | 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 | rs750609591 |
-1.013 | None | N | 0.167 | 0.123 | 0.0138822411134 | gnomAD-4.0.0 | 8.06231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10247E-05 | 0 | 0 |
| R/T | None | None | 0.012 | N | 0.431 | 0.115 | 0.0716867268079 | gnomAD-4.0.0 | 6.84698E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99899E-07 | 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 | 0.2192 | likely_benign | 0.1887 | benign | -0.559 | Destabilizing | 0.016 | N | 0.365 | neutral | None | None | None | None | N |
| R/C | 0.1601 | likely_benign | 0.1642 | benign | -0.499 | Destabilizing | 0.676 | D | 0.543 | neutral | None | None | None | None | N |
| R/D | 0.6575 | likely_pathogenic | 0.5933 | pathogenic | 0.038 | Stabilizing | 0.038 | N | 0.509 | neutral | None | None | None | None | N |
| R/E | 0.3026 | likely_benign | 0.2646 | benign | 0.159 | Stabilizing | 0.016 | N | 0.388 | neutral | None | None | None | None | N |
| R/F | 0.5013 | ambiguous | 0.4663 | ambiguous | -0.395 | Destabilizing | 0.356 | N | 0.552 | neutral | None | None | None | None | N |
| R/G | 0.263 | likely_benign | 0.2244 | benign | -0.868 | Destabilizing | 0.012 | N | 0.44 | neutral | N | 0.480251275 | None | None | N |
| R/H | 0.1462 | likely_benign | 0.1306 | benign | -1.227 | Destabilizing | 0.356 | N | 0.486 | neutral | None | None | None | None | N |
| R/I | 0.1567 | likely_benign | 0.1358 | benign | 0.264 | Stabilizing | 0.171 | N | 0.576 | neutral | N | 0.450795159 | None | None | N |
| R/K | 0.0823 | likely_benign | 0.0712 | benign | -0.598 | Destabilizing | None | N | 0.167 | neutral | N | 0.377201478 | None | None | N |
| R/L | 0.1592 | likely_benign | 0.1507 | benign | 0.264 | Stabilizing | 0.072 | N | 0.491 | neutral | None | None | None | None | N |
| R/M | 0.166 | likely_benign | 0.1337 | benign | -0.12 | Destabilizing | 0.628 | D | 0.538 | neutral | None | None | None | None | N |
| R/N | 0.4594 | ambiguous | 0.3785 | ambiguous | -0.087 | Destabilizing | 0.038 | N | 0.351 | neutral | None | None | None | None | N |
| R/P | 0.1852 | likely_benign | 0.1861 | benign | 0.011 | Stabilizing | None | N | 0.363 | neutral | None | None | None | None | N |
| R/Q | 0.1023 | likely_benign | 0.0987 | benign | -0.225 | Destabilizing | 0.038 | N | 0.331 | neutral | None | None | None | None | N |
| R/S | 0.3787 | ambiguous | 0.3175 | benign | -0.774 | Destabilizing | None | N | 0.25 | neutral | N | 0.442962323 | None | None | N |
| R/T | 0.1578 | likely_benign | 0.1189 | benign | -0.473 | Destabilizing | 0.012 | N | 0.431 | neutral | N | 0.415853079 | None | None | N |
| R/V | 0.1964 | likely_benign | 0.1717 | benign | 0.011 | Stabilizing | 0.072 | N | 0.518 | neutral | None | None | None | None | N |
| R/W | 0.223 | likely_benign | 0.1969 | benign | -0.11 | Destabilizing | 0.864 | D | 0.562 | neutral | None | None | None | None | N |
| R/Y | 0.4092 | ambiguous | 0.3569 | ambiguous | 0.195 | Stabilizing | 0.356 | 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.