Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2820 | 8683;8684;8685 | chr2:178770243;178770242;178770241 | chr2:179634970;179634969;179634968 |
| N2AB | 2820 | 8683;8684;8685 | chr2:178770243;178770242;178770241 | chr2:179634970;179634969;179634968 |
| N2A | 2820 | 8683;8684;8685 | chr2:178770243;178770242;178770241 | chr2:179634970;179634969;179634968 |
| N2B | 2774 | 8545;8546;8547 | chr2:178770243;178770242;178770241 | chr2:179634970;179634969;179634968 |
| Novex-1 | 2774 | 8545;8546;8547 | chr2:178770243;178770242;178770241 | chr2:179634970;179634969;179634968 |
| Novex-2 | 2774 | 8545;8546;8547 | chr2:178770243;178770242;178770241 | chr2:179634970;179634969;179634968 |
| Novex-3 | 2820 | 8683;8684;8685 | chr2:178770243;178770242;178770241 | chr2:179634970;179634969;179634968 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs794729581  |
-0.782 | 1.0 | N | 0.663 | 0.655 | 0.329282125956 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| H/R | rs794729581 |
-0.782 | 1.0 | N | 0.663 | 0.655 | 0.329282125956 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| H/R | rs794729581 |
-0.782 | 1.0 | N | 0.663 | 0.655 | 0.329282125956 | gnomAD-4.0.0 | 6.81517E-06 | None | None | None | None | N | None | 1.33451E-05 | 0 | None | 0 | 0 | None | 3.12324E-05 | 0 | 5.93213E-06 | 0 | 1.60026E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.8546 | likely_pathogenic | 0.8266 | pathogenic | 0.293 | Stabilizing | 0.999 | D | 0.56 | neutral | None | None | None | None | N |
| H/C | 0.5783 | likely_pathogenic | 0.6281 | pathogenic | 0.733 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| H/D | 0.8058 | likely_pathogenic | 0.7841 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.495162663 | None | None | N |
| H/E | 0.827 | likely_pathogenic | 0.8048 | pathogenic | -0.026 | Destabilizing | 0.999 | D | 0.57 | neutral | None | None | None | None | N |
| H/F | 0.7456 | likely_pathogenic | 0.7372 | pathogenic | 1.059 | Stabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| H/G | 0.8933 | likely_pathogenic | 0.8576 | pathogenic | -0.006 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| H/I | 0.8788 | likely_pathogenic | 0.8655 | pathogenic | 1.066 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| H/K | 0.7457 | likely_pathogenic | 0.7038 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| H/L | 0.4813 | ambiguous | 0.4534 | ambiguous | 1.066 | Stabilizing | 1.0 | D | 0.651 | neutral | D | 0.558835115 | None | None | N |
| H/M | 0.9039 | likely_pathogenic | 0.8922 | pathogenic | 0.784 | Stabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| H/N | 0.4542 | ambiguous | 0.4279 | ambiguous | 0.184 | Stabilizing | 0.999 | D | 0.59 | neutral | N | 0.50917099 | None | None | N |
| H/P | 0.8823 | likely_pathogenic | 0.7365 | pathogenic | 0.834 | Stabilizing | 1.0 | D | 0.625 | neutral | N | 0.50614125 | None | None | N |
| H/Q | 0.6878 | likely_pathogenic | 0.6513 | pathogenic | 0.318 | Stabilizing | 1.0 | D | 0.655 | neutral | N | 0.507677027 | None | None | N |
| H/R | 0.4393 | ambiguous | 0.3949 | ambiguous | -0.43 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.489282525 | None | None | N |
| H/S | 0.7635 | likely_pathogenic | 0.7338 | pathogenic | 0.305 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| H/T | 0.8675 | likely_pathogenic | 0.8435 | pathogenic | 0.444 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| H/V | 0.8089 | likely_pathogenic | 0.7921 | pathogenic | 0.834 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| H/W | 0.7632 | likely_pathogenic | 0.7572 | pathogenic | 1.068 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| H/Y | 0.3166 | likely_benign | 0.3177 | benign | 1.318 | Stabilizing | 0.999 | D | 0.603 | neutral | N | 0.510018237 | 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.