Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28394 | 85405;85406;85407 | chr2:178560952;178560951;178560950 | chr2:179425679;179425678;179425677 |
| N2AB | 26753 | 80482;80483;80484 | chr2:178560952;178560951;178560950 | chr2:179425679;179425678;179425677 |
| N2A | 25826 | 77701;77702;77703 | chr2:178560952;178560951;178560950 | chr2:179425679;179425678;179425677 |
| N2B | 19329 | 58210;58211;58212 | chr2:178560952;178560951;178560950 | chr2:179425679;179425678;179425677 |
| Novex-1 | 19454 | 58585;58586;58587 | chr2:178560952;178560951;178560950 | chr2:179425679;179425678;179425677 |
| Novex-2 | 19521 | 58786;58787;58788 | chr2:178560952;178560951;178560950 | chr2:179425679;179425678;179425677 |
| 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/E | rs1703423853  |
None | 1.0 | N | 0.437 | 0.296 | 0.336400405673 | gnomAD-4.0.0 | 3.18256E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71621E-06 | 0 | 0 |
| D/G | rs751635229 |
0.056 | 1.0 | N | 0.673 | 0.46 | 0.272205846399 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/G | rs751635229 |
0.056 | 1.0 | N | 0.673 | 0.46 | 0.272205846399 | gnomAD-4.0.0 | 4.77386E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57442E-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 | 0.2943 | likely_benign | 0.2434 | benign | -0.465 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.463346025 | None | None | N |
| D/C | 0.7161 | likely_pathogenic | 0.6423 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| D/E | 0.2958 | likely_benign | 0.2531 | benign | -0.298 | Destabilizing | 1.0 | D | 0.437 | neutral | N | 0.486784884 | None | None | N |
| D/F | 0.8355 | likely_pathogenic | 0.7777 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| D/G | 0.1816 | likely_benign | 0.1559 | benign | -0.74 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.490785194 | None | None | N |
| D/H | 0.5227 | ambiguous | 0.4438 | ambiguous | 0.083 | Stabilizing | 1.0 | D | 0.623 | neutral | N | 0.497921921 | None | None | N |
| D/I | 0.8083 | likely_pathogenic | 0.7324 | pathogenic | 0.237 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/K | 0.6528 | likely_pathogenic | 0.5741 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/L | 0.6919 | likely_pathogenic | 0.6156 | pathogenic | 0.237 | Stabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| D/M | 0.8557 | likely_pathogenic | 0.7957 | pathogenic | 0.395 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| D/N | 0.1222 | likely_benign | 0.1114 | benign | -0.431 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.47184993 | None | None | N |
| D/P | 0.9735 | likely_pathogenic | 0.9581 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/Q | 0.5737 | likely_pathogenic | 0.5058 | ambiguous | -0.32 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| D/R | 0.6336 | likely_pathogenic | 0.5573 | ambiguous | 0.397 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/S | 0.2302 | likely_benign | 0.1973 | benign | -0.561 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| D/T | 0.617 | likely_pathogenic | 0.5364 | ambiguous | -0.327 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/V | 0.5699 | likely_pathogenic | 0.4754 | ambiguous | 0.026 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.493567054 | None | None | N |
| D/W | 0.934 | likely_pathogenic | 0.9042 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| D/Y | 0.3232 | likely_benign | 0.264 | benign | 0.255 | Stabilizing | 1.0 | D | 0.647 | neutral | N | 0.516279665 | 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.