Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2810 | 8653;8654;8655 | chr2:178770273;178770272;178770271 | chr2:179635000;179634999;179634998 |
| N2AB | 2810 | 8653;8654;8655 | chr2:178770273;178770272;178770271 | chr2:179635000;179634999;179634998 |
| N2A | 2810 | 8653;8654;8655 | chr2:178770273;178770272;178770271 | chr2:179635000;179634999;179634998 |
| N2B | 2764 | 8515;8516;8517 | chr2:178770273;178770272;178770271 | chr2:179635000;179634999;179634998 |
| Novex-1 | 2764 | 8515;8516;8517 | chr2:178770273;178770272;178770271 | chr2:179635000;179634999;179634998 |
| Novex-2 | 2764 | 8515;8516;8517 | chr2:178770273;178770272;178770271 | chr2:179635000;179634999;179634998 |
| Novex-3 | 2810 | 8653;8654;8655 | chr2:178770273;178770272;178770271 | chr2:179635000;179634999;179634998 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1431193511  |
-1.23 | 0.002 | N | 0.135 | 0.142 | 0.15556083564 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs1431193511 |
-1.23 | 0.002 | N | 0.135 | 0.142 | 0.15556083564 | gnomAD-4.0.0 | 3.18097E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76554E-05 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
| A/V | None | None | 0.379 | N | 0.437 | 0.187 | 0.306695030598 | gnomAD-4.0.0 | 3.18097E-06 | None | None | None | None | N | None | 0 | 4.57268E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4316 | ambiguous | 0.5854 | pathogenic | -0.803 | Destabilizing | 0.977 | D | 0.467 | neutral | None | None | None | None | N |
| A/D | 0.3583 | ambiguous | 0.4528 | ambiguous | -1.11 | Destabilizing | 0.549 | D | 0.409 | neutral | N | 0.430681653 | None | None | N |
| A/E | 0.333 | likely_benign | 0.4068 | ambiguous | -1.229 | Destabilizing | 0.617 | D | 0.423 | neutral | None | None | None | None | N |
| A/F | 0.4897 | ambiguous | 0.6283 | pathogenic | -1.216 | Destabilizing | 0.92 | D | 0.451 | neutral | None | None | None | None | N |
| A/G | 0.1448 | likely_benign | 0.1851 | benign | -0.92 | Destabilizing | 0.002 | N | 0.135 | neutral | N | 0.421275788 | None | None | N |
| A/H | 0.5545 | ambiguous | 0.6684 | pathogenic | -1.042 | Destabilizing | 0.992 | D | 0.431 | neutral | None | None | None | None | N |
| A/I | 0.3796 | ambiguous | 0.514 | ambiguous | -0.566 | Destabilizing | 0.739 | D | 0.421 | neutral | None | None | None | None | N |
| A/K | 0.5318 | ambiguous | 0.6251 | pathogenic | -1.08 | Destabilizing | 0.617 | D | 0.427 | neutral | None | None | None | None | N |
| A/L | 0.2719 | likely_benign | 0.3706 | ambiguous | -0.566 | Destabilizing | 0.447 | N | 0.393 | neutral | None | None | None | None | N |
| A/M | 0.2339 | likely_benign | 0.3144 | benign | -0.338 | Destabilizing | 0.977 | D | 0.433 | neutral | None | None | None | None | N |
| A/N | 0.2371 | likely_benign | 0.3125 | benign | -0.698 | Destabilizing | 0.617 | D | 0.419 | neutral | None | None | None | None | N |
| A/P | 0.9018 | likely_pathogenic | 0.9338 | pathogenic | -0.599 | Destabilizing | 0.004 | N | 0.259 | neutral | N | 0.462369307 | None | None | N |
| A/Q | 0.3573 | ambiguous | 0.4248 | ambiguous | -1.0 | Destabilizing | 0.92 | D | 0.437 | neutral | None | None | None | None | N |
| A/R | 0.4891 | ambiguous | 0.5605 | ambiguous | -0.583 | Destabilizing | 0.85 | D | 0.417 | neutral | None | None | None | None | N |
| A/S | 0.0796 | likely_benign | 0.0923 | benign | -0.937 | Destabilizing | 0.045 | N | 0.267 | neutral | N | 0.424425801 | None | None | N |
| A/T | 0.0737 | likely_benign | 0.0839 | benign | -0.983 | Destabilizing | 0.002 | N | 0.155 | neutral | N | 0.422976985 | None | None | N |
| A/V | 0.1775 | likely_benign | 0.2434 | benign | -0.599 | Destabilizing | 0.379 | N | 0.437 | neutral | N | 0.463906865 | None | None | N |
| A/W | 0.8662 | likely_pathogenic | 0.9307 | pathogenic | -1.413 | Destabilizing | 0.992 | D | 0.515 | neutral | None | None | None | None | N |
| A/Y | 0.5827 | likely_pathogenic | 0.7287 | pathogenic | -1.069 | Destabilizing | 0.92 | D | 0.449 | 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.