Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25103 | 75532;75533;75534 | chr2:178570825;178570824;178570823 | chr2:179435552;179435551;179435550 |
| N2AB | 23462 | 70609;70610;70611 | chr2:178570825;178570824;178570823 | chr2:179435552;179435551;179435550 |
| N2A | 22535 | 67828;67829;67830 | chr2:178570825;178570824;178570823 | chr2:179435552;179435551;179435550 |
| N2B | 16038 | 48337;48338;48339 | chr2:178570825;178570824;178570823 | chr2:179435552;179435551;179435550 |
| Novex-1 | 16163 | 48712;48713;48714 | chr2:178570825;178570824;178570823 | chr2:179435552;179435551;179435550 |
| Novex-2 | 16230 | 48913;48914;48915 | chr2:178570825;178570824;178570823 | chr2:179435552;179435551;179435550 |
| 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/K | rs758786845  |
-0.545 | None | N | 0.147 | 0.098 | 0.0920862733494 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| R/K | rs758786845 |
-0.545 | None | N | 0.147 | 0.098 | 0.0920862733494 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| R/K | rs758786845 |
-0.545 | None | N | 0.147 | 0.098 | 0.0920862733494 | gnomAD-4.0.0 | 3.8445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.70751E-05 | 0 | 0 | 0 | 0 |
| R/T | rs758786845 |
-0.367 | 0.501 | N | 0.484 | 0.159 | 0.173771789658 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 8.9E-06 | 0 |
| R/T | rs758786845 |
-0.367 | 0.501 | N | 0.484 | 0.159 | 0.173771789658 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93573E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs758786845 |
-0.367 | 0.501 | N | 0.484 | 0.159 | 0.173771789658 | gnomAD-4.0.0 | 6.4075E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.28226E-05 | None | 0 | 0 | 4.7876E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.6293 | likely_pathogenic | 0.5807 | pathogenic | -0.48 | Destabilizing | 0.216 | N | 0.419 | neutral | None | None | None | None | N |
| R/C | 0.3004 | likely_benign | 0.2628 | benign | -0.348 | Destabilizing | 0.991 | D | 0.589 | neutral | None | None | None | None | N |
| R/D | 0.9218 | likely_pathogenic | 0.9027 | pathogenic | -0.102 | Destabilizing | 0.571 | D | 0.502 | neutral | None | None | None | None | N |
| R/E | 0.6095 | likely_pathogenic | 0.5645 | pathogenic | -0.015 | Destabilizing | 0.216 | N | 0.421 | neutral | None | None | None | None | N |
| R/F | 0.7771 | likely_pathogenic | 0.7259 | pathogenic | -0.516 | Destabilizing | 0.966 | D | 0.557 | neutral | None | None | None | None | N |
| R/G | 0.5504 | ambiguous | 0.4985 | ambiguous | -0.748 | Destabilizing | 0.501 | D | 0.423 | neutral | N | 0.45772584 | None | None | N |
| R/H | 0.1834 | likely_benign | 0.1666 | benign | -1.162 | Destabilizing | 0.905 | D | 0.369 | neutral | None | None | None | None | N |
| R/I | 0.45 | ambiguous | 0.3911 | ambiguous | 0.22 | Stabilizing | 0.877 | D | 0.591 | neutral | N | 0.479466549 | None | None | N |
| R/K | 0.0904 | likely_benign | 0.0832 | benign | -0.538 | Destabilizing | None | N | 0.147 | neutral | N | 0.35223317 | None | None | N |
| R/L | 0.4378 | ambiguous | 0.394 | ambiguous | 0.22 | Stabilizing | 0.571 | D | 0.423 | neutral | None | None | None | None | N |
| R/M | 0.4269 | ambiguous | 0.3751 | ambiguous | -0.011 | Destabilizing | 0.966 | D | 0.414 | neutral | None | None | None | None | N |
| R/N | 0.8299 | likely_pathogenic | 0.7964 | pathogenic | 0.027 | Stabilizing | 0.571 | D | 0.461 | neutral | None | None | None | None | N |
| R/P | 0.9751 | likely_pathogenic | 0.9639 | pathogenic | 0.008 | Stabilizing | 0.905 | D | 0.551 | neutral | None | None | None | None | N |
| R/Q | 0.1648 | likely_benign | 0.1477 | benign | -0.193 | Destabilizing | 0.571 | D | 0.527 | neutral | None | None | None | None | N |
| R/S | 0.7413 | likely_pathogenic | 0.698 | pathogenic | -0.592 | Destabilizing | 0.501 | D | 0.444 | neutral | N | 0.502708768 | None | None | N |
| R/T | 0.4255 | ambiguous | 0.3811 | ambiguous | -0.347 | Destabilizing | 0.501 | D | 0.484 | neutral | N | 0.461131504 | None | None | N |
| R/V | 0.5141 | ambiguous | 0.4643 | ambiguous | 0.008 | Stabilizing | 0.824 | D | 0.517 | neutral | None | None | None | None | N |
| R/W | 0.3805 | ambiguous | 0.3161 | benign | -0.301 | Destabilizing | 0.991 | D | 0.673 | prob.neutral | None | None | None | None | N |
| R/Y | 0.6725 | likely_pathogenic | 0.6053 | pathogenic | 0.039 | Stabilizing | 0.966 | D | 0.575 | 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.