Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25391 | 76396;76397;76398 | chr2:178569961;178569960;178569959 | chr2:179434688;179434687;179434686 |
| N2AB | 23750 | 71473;71474;71475 | chr2:178569961;178569960;178569959 | chr2:179434688;179434687;179434686 |
| N2A | 22823 | 68692;68693;68694 | chr2:178569961;178569960;178569959 | chr2:179434688;179434687;179434686 |
| N2B | 16326 | 49201;49202;49203 | chr2:178569961;178569960;178569959 | chr2:179434688;179434687;179434686 |
| Novex-1 | 16451 | 49576;49577;49578 | chr2:178569961;178569960;178569959 | chr2:179434688;179434687;179434686 |
| Novex-2 | 16518 | 49777;49778;49779 | chr2:178569961;178569960;178569959 | chr2:179434688;179434687;179434686 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | None | None | 1.0 | D | 0.891 | 0.597 | 0.719532834518 | gnomAD-4.0.0 | 1.59509E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86554E-06 | 0 | 0 |
| S/R | None | None | 1.0 | D | 0.876 | 0.692 | 0.435808882951 | gnomAD-4.0.0 | 6.84885E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0016E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4811 | ambiguous | 0.4213 | ambiguous | -0.695 | Destabilizing | 0.998 | D | 0.845 | deleterious | None | None | None | None | N |
| S/C | 0.5579 | ambiguous | 0.5116 | ambiguous | -0.71 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.574299317 | None | None | N |
| S/D | 0.9953 | likely_pathogenic | 0.9951 | pathogenic | -1.494 | Destabilizing | 0.999 | D | 0.888 | deleterious | None | None | None | None | N |
| S/E | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -1.401 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| S/F | 0.9872 | likely_pathogenic | 0.9807 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| S/G | 0.4717 | ambiguous | 0.368 | ambiguous | -1.018 | Destabilizing | 0.999 | D | 0.882 | deleterious | D | 0.530644841 | None | None | N |
| S/H | 0.9899 | likely_pathogenic | 0.9879 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| S/I | 0.9726 | likely_pathogenic | 0.9604 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.891 | deleterious | D | 0.573792338 | None | None | N |
| S/K | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.888 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| S/L | 0.8705 | likely_pathogenic | 0.845 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| S/M | 0.9556 | likely_pathogenic | 0.948 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| S/N | 0.9728 | likely_pathogenic | 0.9667 | pathogenic | -1.227 | Destabilizing | 0.999 | D | 0.893 | deleterious | D | 0.573538849 | None | None | N |
| S/P | 0.99 | likely_pathogenic | 0.985 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| S/Q | 0.9937 | likely_pathogenic | 0.9929 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| S/R | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.554674125 | None | None | N |
| S/T | 0.5503 | ambiguous | 0.5957 | pathogenic | -0.969 | Destabilizing | 0.999 | D | 0.891 | deleterious | D | 0.531503761 | None | None | N |
| S/V | 0.9438 | likely_pathogenic | 0.9245 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| S/W | 0.9932 | likely_pathogenic | 0.9902 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| S/Y | 0.9885 | likely_pathogenic | 0.9828 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.908 | 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.