Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6491 | 19696;19697;19698 | chr2:178728353;178728352;178728351 | chr2:179593080;179593079;179593078 |
| N2AB | 6174 | 18745;18746;18747 | chr2:178728353;178728352;178728351 | chr2:179593080;179593079;179593078 |
| N2A | 5247 | 15964;15965;15966 | chr2:178728353;178728352;178728351 | chr2:179593080;179593079;179593078 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs747741123  |
-0.229 | 0.722 | N | 0.422 | 0.315 | 0.287603790349 | gnomAD-2.1.1 | 8.39E-06 | None | None | None | None | N | None | 0 | 3.03E-05 | None | 0 | 0 | None | 3.49E-05 | None | 0 | 0 | 0 |
| D/G | rs747741123 |
-0.229 | 0.722 | N | 0.422 | 0.315 | 0.287603790349 | gnomAD-4.0.0 | 2.06356E-06 | None | None | None | None | N | None | 0 | 2.30319E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.18164E-05 | 1.66706E-05 |
| D/N | rs2079733131 |
None | 0.722 | N | 0.484 | 0.254 | 0.21279746466 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| D/N | rs2079733131 |
None | 0.722 | N | 0.484 | 0.254 | 0.21279746466 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| D/Y | None | None | 0.983 | N | 0.555 | 0.349 | 0.632792546795 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.275 | likely_benign | 0.2668 | benign | -0.409 | Destabilizing | 0.565 | D | 0.431 | neutral | N | 0.488439188 | None | None | N |
| D/C | 0.796 | likely_pathogenic | 0.7952 | pathogenic | -0.166 | Destabilizing | 0.996 | D | 0.634 | neutral | None | None | None | None | N |
| D/E | 0.1481 | likely_benign | 0.1568 | benign | -0.549 | Destabilizing | 0.003 | N | 0.088 | neutral | N | 0.427177299 | None | None | N |
| D/F | 0.7555 | likely_pathogenic | 0.746 | pathogenic | -0.213 | Destabilizing | 0.987 | D | 0.555 | neutral | None | None | None | None | N |
| D/G | 0.2243 | likely_benign | 0.2301 | benign | -0.682 | Destabilizing | 0.722 | D | 0.422 | neutral | N | 0.487351851 | None | None | N |
| D/H | 0.4217 | ambiguous | 0.4205 | ambiguous | -0.363 | Destabilizing | 0.949 | D | 0.48 | neutral | N | 0.485689672 | None | None | N |
| D/I | 0.5152 | ambiguous | 0.4861 | ambiguous | 0.282 | Stabilizing | 0.961 | D | 0.549 | neutral | None | None | None | None | N |
| D/K | 0.5429 | ambiguous | 0.5534 | ambiguous | -0.2 | Destabilizing | 0.633 | D | 0.42 | neutral | None | None | None | None | N |
| D/L | 0.5454 | ambiguous | 0.5351 | ambiguous | 0.282 | Stabilizing | 0.923 | D | 0.471 | neutral | None | None | None | None | N |
| D/M | 0.7225 | likely_pathogenic | 0.7256 | pathogenic | 0.516 | Stabilizing | 0.996 | D | 0.547 | neutral | None | None | None | None | N |
| D/N | 0.1356 | likely_benign | 0.1428 | benign | -0.492 | Destabilizing | 0.722 | D | 0.484 | neutral | N | 0.444861769 | None | None | N |
| D/P | 0.7973 | likely_pathogenic | 0.7818 | pathogenic | 0.076 | Stabilizing | 0.961 | D | 0.437 | neutral | None | None | None | None | N |
| D/Q | 0.3943 | ambiguous | 0.4076 | ambiguous | -0.417 | Destabilizing | 0.118 | N | 0.133 | neutral | None | None | None | None | N |
| D/R | 0.5851 | likely_pathogenic | 0.5908 | pathogenic | -0.008 | Destabilizing | 0.923 | D | 0.444 | neutral | None | None | None | None | N |
| D/S | 0.1867 | likely_benign | 0.2004 | benign | -0.659 | Destabilizing | 0.633 | D | 0.421 | neutral | None | None | None | None | N |
| D/T | 0.3123 | likely_benign | 0.32 | benign | -0.452 | Destabilizing | 0.775 | D | 0.443 | neutral | None | None | None | None | N |
| D/V | 0.2997 | likely_benign | 0.2748 | benign | 0.076 | Stabilizing | 0.901 | D | 0.464 | neutral | N | 0.496922599 | None | None | N |
| D/W | 0.9231 | likely_pathogenic | 0.9164 | pathogenic | -0.077 | Destabilizing | 0.996 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/Y | 0.3742 | ambiguous | 0.342 | ambiguous | 0.003 | Stabilizing | 0.983 | D | 0.555 | neutral | N | 0.478051623 | 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.