Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14102 | 42529;42530;42531 | chr2:178634477;178634476;178634475 | chr2:179499204;179499203;179499202 |
| N2AB | 12461 | 37606;37607;37608 | chr2:178634477;178634476;178634475 | chr2:179499204;179499203;179499202 |
| N2A | 11534 | 34825;34826;34827 | chr2:178634477;178634476;178634475 | chr2:179499204;179499203;179499202 |
| N2B | 5037 | 15334;15335;15336 | chr2:178634477;178634476;178634475 | chr2:179499204;179499203;179499202 |
| Novex-1 | 5162 | 15709;15710;15711 | chr2:178634477;178634476;178634475 | chr2:179499204;179499203;179499202 |
| Novex-2 | 5229 | 15910;15911;15912 | chr2:178634477;178634476;178634475 | chr2:179499204;179499203;179499202 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs72650080  |
-0.393 | 0.001 | N | 0.269 | 0.057 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.5448E-04 | None | 0 | None | 0 | 7.84E-06 | 0 |
| A/T | rs72650080 |
-0.393 | 0.001 | N | 0.269 | 0.057 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 3.86997E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs72650080 |
-0.393 | 0.001 | N | 0.269 | 0.057 | None | gnomAD-4.0.0 | 1.73582E-05 | None | None | None | None | N | None | 2.67258E-05 | 0 | None | 0 | 1.33917E-04 | None | 0 | 0 | 1.01739E-05 | 7.68825E-05 | 1.6022E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5638 | ambiguous | 0.486 | ambiguous | -0.688 | Destabilizing | 0.676 | D | 0.507 | neutral | None | None | None | None | N |
| A/D | 0.4944 | ambiguous | 0.4117 | ambiguous | -0.807 | Destabilizing | None | N | 0.425 | neutral | N | 0.438632721 | None | None | N |
| A/E | 0.4337 | ambiguous | 0.3217 | benign | -0.947 | Destabilizing | 0.016 | N | 0.481 | neutral | None | None | None | None | N |
| A/F | 0.4747 | ambiguous | 0.4082 | ambiguous | -1.011 | Destabilizing | 0.214 | N | 0.603 | neutral | None | None | None | None | N |
| A/G | 0.2083 | likely_benign | 0.1992 | benign | -0.598 | Destabilizing | 0.012 | N | 0.393 | neutral | N | 0.512595257 | None | None | N |
| A/H | 0.6044 | likely_pathogenic | 0.5076 | ambiguous | -0.687 | Destabilizing | 0.356 | N | 0.579 | neutral | None | None | None | None | N |
| A/I | 0.4101 | ambiguous | 0.2663 | benign | -0.412 | Destabilizing | 0.001 | N | 0.407 | neutral | None | None | None | None | N |
| A/K | 0.6308 | likely_pathogenic | 0.4596 | ambiguous | -0.925 | Destabilizing | 0.038 | N | 0.495 | neutral | None | None | None | None | N |
| A/L | 0.3053 | likely_benign | 0.2177 | benign | -0.412 | Destabilizing | 0.016 | N | 0.483 | neutral | None | None | None | None | N |
| A/M | 0.3872 | ambiguous | 0.2642 | benign | -0.329 | Destabilizing | 0.356 | N | 0.517 | neutral | None | None | None | None | N |
| A/N | 0.3698 | ambiguous | 0.2929 | benign | -0.502 | Destabilizing | 0.038 | N | 0.587 | neutral | None | None | None | None | N |
| A/P | 0.5894 | likely_pathogenic | 0.4829 | ambiguous | -0.404 | Destabilizing | 0.344 | N | 0.52 | neutral | N | 0.493889823 | None | None | N |
| A/Q | 0.4365 | ambiguous | 0.3557 | ambiguous | -0.796 | Destabilizing | 0.007 | N | 0.403 | neutral | None | None | None | None | N |
| A/R | 0.5318 | ambiguous | 0.4005 | ambiguous | -0.404 | Destabilizing | 0.214 | N | 0.525 | neutral | None | None | None | None | N |
| A/S | 0.1001 | likely_benign | 0.0946 | benign | -0.699 | Destabilizing | None | N | 0.235 | neutral | N | 0.444230165 | None | None | N |
| A/T | 0.1262 | likely_benign | 0.0786 | benign | -0.763 | Destabilizing | 0.001 | N | 0.269 | neutral | N | 0.489923254 | None | None | N |
| A/V | 0.203 | likely_benign | 0.1397 | benign | -0.404 | Destabilizing | None | N | 0.254 | neutral | N | 0.458535883 | None | None | N |
| A/W | 0.8274 | likely_pathogenic | 0.776 | pathogenic | -1.189 | Destabilizing | 0.864 | D | 0.605 | neutral | None | None | None | None | N |
| A/Y | 0.616 | likely_pathogenic | 0.536 | ambiguous | -0.847 | Destabilizing | 0.356 | N | 0.605 | 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.