Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25017 | 75274;75275;75276 | chr2:178571083;178571082;178571081 | chr2:179435810;179435809;179435808 |
| N2AB | 23376 | 70351;70352;70353 | chr2:178571083;178571082;178571081 | chr2:179435810;179435809;179435808 |
| N2A | 22449 | 67570;67571;67572 | chr2:178571083;178571082;178571081 | chr2:179435810;179435809;179435808 |
| N2B | 15952 | 48079;48080;48081 | chr2:178571083;178571082;178571081 | chr2:179435810;179435809;179435808 |
| Novex-1 | 16077 | 48454;48455;48456 | chr2:178571083;178571082;178571081 | chr2:179435810;179435809;179435808 |
| Novex-2 | 16144 | 48655;48656;48657 | chr2:178571083;178571082;178571081 | chr2:179435810;179435809;179435808 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs771941844  |
-0.53 | 0.939 | N | 0.598 | 0.126 | 0.619116397592 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/T | rs771941844 |
-0.53 | 0.939 | N | 0.598 | 0.126 | 0.619116397592 | gnomAD-4.0.0 | 4.79114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49871E-06 | 2.31932E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2028 | likely_benign | 0.1765 | benign | -1.291 | Destabilizing | 0.91 | D | 0.498 | neutral | None | None | None | None | N |
| I/C | 0.6157 | likely_pathogenic | 0.5714 | pathogenic | -0.819 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| I/D | 0.59 | likely_pathogenic | 0.5072 | ambiguous | -0.678 | Destabilizing | 0.998 | D | 0.681 | prob.neutral | None | None | None | None | N |
| I/E | 0.4799 | ambiguous | 0.4286 | ambiguous | -0.727 | Destabilizing | 0.993 | D | 0.685 | prob.neutral | None | None | None | None | N |
| I/F | 0.1504 | likely_benign | 0.132 | benign | -1.002 | Destabilizing | 0.991 | D | 0.604 | neutral | N | 0.481480639 | None | None | N |
| I/G | 0.6139 | likely_pathogenic | 0.5405 | ambiguous | -1.547 | Destabilizing | 0.993 | D | 0.683 | prob.neutral | None | None | None | None | N |
| I/H | 0.3696 | ambiguous | 0.3192 | benign | -0.733 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| I/K | 0.3122 | likely_benign | 0.2673 | benign | -0.794 | Destabilizing | 0.993 | D | 0.683 | prob.neutral | None | None | None | None | N |
| I/L | 0.1206 | likely_benign | 0.1117 | benign | -0.699 | Destabilizing | 0.58 | D | 0.281 | neutral | N | 0.460721364 | None | None | N |
| I/M | 0.093 | likely_benign | 0.0874 | benign | -0.527 | Destabilizing | 0.991 | D | 0.587 | neutral | N | 0.452544598 | None | None | N |
| I/N | 0.261 | likely_benign | 0.2138 | benign | -0.567 | Destabilizing | 0.997 | D | 0.687 | prob.neutral | N | 0.412329985 | None | None | N |
| I/P | 0.9045 | likely_pathogenic | 0.8578 | pathogenic | -0.863 | Destabilizing | 0.998 | D | 0.692 | prob.neutral | None | None | None | None | N |
| I/Q | 0.3744 | ambiguous | 0.3323 | benign | -0.81 | Destabilizing | 0.998 | D | 0.669 | neutral | None | None | None | None | N |
| I/R | 0.2321 | likely_benign | 0.1958 | benign | -0.162 | Destabilizing | 0.993 | D | 0.686 | prob.neutral | None | None | None | None | N |
| I/S | 0.2081 | likely_benign | 0.1819 | benign | -1.133 | Destabilizing | 0.991 | D | 0.623 | neutral | N | 0.388973122 | None | None | N |
| I/T | 0.1171 | likely_benign | 0.0989 | benign | -1.072 | Destabilizing | 0.939 | D | 0.598 | neutral | N | 0.427531511 | None | None | N |
| I/V | 0.0757 | likely_benign | 0.0782 | benign | -0.863 | Destabilizing | 0.02 | N | 0.173 | neutral | N | 0.400326266 | None | None | N |
| I/W | 0.6928 | likely_pathogenic | 0.644 | pathogenic | -1.004 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| I/Y | 0.4408 | ambiguous | 0.396 | ambiguous | -0.785 | Destabilizing | 0.998 | D | 0.643 | 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.