Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18227 | 54904;54905;54906 | chr2:178604008;178604007;178604006 | chr2:179468735;179468734;179468733 |
| N2AB | 16586 | 49981;49982;49983 | chr2:178604008;178604007;178604006 | chr2:179468735;179468734;179468733 |
| N2A | 15659 | 47200;47201;47202 | chr2:178604008;178604007;178604006 | chr2:179468735;179468734;179468733 |
| N2B | 9162 | 27709;27710;27711 | chr2:178604008;178604007;178604006 | chr2:179468735;179468734;179468733 |
| Novex-1 | 9287 | 28084;28085;28086 | chr2:178604008;178604007;178604006 | chr2:179468735;179468734;179468733 |
| Novex-2 | 9354 | 28285;28286;28287 | chr2:178604008;178604007;178604006 | chr2:179468735;179468734;179468733 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs371332455  |
-0.025 | 1.0 | N | 0.745 | 0.277 | 0.233785782151 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/N | rs371332455 |
-0.025 | 1.0 | N | 0.745 | 0.277 | 0.233785782151 | gnomAD-4.0.0 | 1.59306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86239E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4522 | ambiguous | 0.3668 | ambiguous | -0.083 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| K/C | 0.7799 | likely_pathogenic | 0.7268 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/D | 0.616 | likely_pathogenic | 0.5521 | ambiguous | -0.36 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/E | 0.3223 | likely_benign | 0.2577 | benign | -0.381 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.487638607 | None | None | N |
| K/F | 0.8938 | likely_pathogenic | 0.8297 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/G | 0.4903 | ambiguous | 0.4091 | ambiguous | -0.172 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| K/H | 0.3778 | ambiguous | 0.3149 | benign | -0.206 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| K/I | 0.6278 | likely_pathogenic | 0.526 | ambiguous | 0.068 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.478005057 | None | None | N |
| K/L | 0.5429 | ambiguous | 0.4465 | ambiguous | 0.068 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| K/M | 0.4582 | ambiguous | 0.368 | ambiguous | -0.265 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| K/N | 0.5135 | ambiguous | 0.4496 | ambiguous | -0.164 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.48787068 | None | None | N |
| K/P | 0.5915 | likely_pathogenic | 0.4904 | ambiguous | 0.038 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| K/Q | 0.1981 | likely_benign | 0.1558 | benign | -0.29 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.497740957 | None | None | N |
| K/R | 0.0959 | likely_benign | 0.0862 | benign | -0.202 | Destabilizing | 0.999 | D | 0.519 | neutral | N | 0.47628825 | None | None | N |
| K/S | 0.5142 | ambiguous | 0.4263 | ambiguous | -0.512 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| K/T | 0.3006 | likely_benign | 0.2353 | benign | -0.431 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.476229534 | None | None | N |
| K/V | 0.5477 | ambiguous | 0.4685 | ambiguous | 0.038 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| K/W | 0.87 | likely_pathogenic | 0.7883 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/Y | 0.7559 | likely_pathogenic | 0.6759 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.661 | 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.