Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2376 | 7351;7352;7353 | chr2:178774042;178774041;178774040 | chr2:179638769;179638768;179638767 |
| N2AB | 2376 | 7351;7352;7353 | chr2:178774042;178774041;178774040 | chr2:179638769;179638768;179638767 |
| N2A | 2376 | 7351;7352;7353 | chr2:178774042;178774041;178774040 | chr2:179638769;179638768;179638767 |
| N2B | 2330 | 7213;7214;7215 | chr2:178774042;178774041;178774040 | chr2:179638769;179638768;179638767 |
| Novex-1 | 2330 | 7213;7214;7215 | chr2:178774042;178774041;178774040 | chr2:179638769;179638768;179638767 |
| Novex-2 | 2330 | 7213;7214;7215 | chr2:178774042;178774041;178774040 | chr2:179638769;179638768;179638767 |
| Novex-3 | 2376 | 7351;7352;7353 | chr2:178774042;178774041;178774040 | chr2:179638769;179638768;179638767 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1299039335  |
-0.628 | 0.999 | N | 0.584 | 0.477 | 0.509463317838 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| E/K | rs1299039335 |
-0.628 | 0.999 | N | 0.584 | 0.477 | 0.509463317838 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5029 | ambiguous | 0.4837 | ambiguous | -0.949 | Destabilizing | 0.999 | D | 0.674 | neutral | D | 0.541123585 | None | None | N |
| E/C | 0.9805 | likely_pathogenic | 0.9777 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/D | 0.5373 | ambiguous | 0.541 | ambiguous | -1.39 | Destabilizing | 0.999 | D | 0.498 | neutral | N | 0.51490255 | None | None | N |
| E/F | 0.9756 | likely_pathogenic | 0.9722 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/G | 0.6633 | likely_pathogenic | 0.6419 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.609854841 | None | None | N |
| E/H | 0.924 | likely_pathogenic | 0.915 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| E/I | 0.818 | likely_pathogenic | 0.7963 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| E/K | 0.7851 | likely_pathogenic | 0.7576 | pathogenic | -0.934 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.512302271 | None | None | N |
| E/L | 0.869 | likely_pathogenic | 0.8531 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| E/M | 0.8232 | likely_pathogenic | 0.8061 | pathogenic | 0.616 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/N | 0.8036 | likely_pathogenic | 0.7865 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| E/P | 0.9922 | likely_pathogenic | 0.9908 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/Q | 0.4427 | ambiguous | 0.4194 | ambiguous | -1.162 | Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.545873227 | None | None | N |
| E/R | 0.8624 | likely_pathogenic | 0.8473 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/S | 0.681 | likely_pathogenic | 0.6601 | pathogenic | -1.689 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| E/T | 0.6791 | likely_pathogenic | 0.6543 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| E/V | 0.6053 | likely_pathogenic | 0.5788 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.558775783 | None | None | N |
| E/W | 0.9935 | likely_pathogenic | 0.9931 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/Y | 0.9699 | likely_pathogenic | 0.966 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.786 | deleterious | 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.