Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28031 | 84316;84317;84318 | chr2:178562041;178562040;178562039 | chr2:179426768;179426767;179426766 |
| N2AB | 26390 | 79393;79394;79395 | chr2:178562041;178562040;178562039 | chr2:179426768;179426767;179426766 |
| N2A | 25463 | 76612;76613;76614 | chr2:178562041;178562040;178562039 | chr2:179426768;179426767;179426766 |
| N2B | 18966 | 57121;57122;57123 | chr2:178562041;178562040;178562039 | chr2:179426768;179426767;179426766 |
| Novex-1 | 19091 | 57496;57497;57498 | chr2:178562041;178562040;178562039 | chr2:179426768;179426767;179426766 |
| Novex-2 | 19158 | 57697;57698;57699 | chr2:178562041;178562040;178562039 | chr2:179426768;179426767;179426766 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1206516728  |
-0.708 | 1.0 | D | 0.792 | 0.608 | 0.830135647135 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| G/E | rs1206516728 |
-0.708 | 1.0 | D | 0.792 | 0.608 | 0.830135647135 | gnomAD-4.0.0 | 1.59239E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88437E-05 | 0 | 0 | 0 | 0 |
| G/R | rs1469962986 |
None | 1.0 | D | 0.801 | 0.607 | 0.870220664263 | gnomAD-4.0.0 | 2.40068E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66354E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6553 | likely_pathogenic | 0.6093 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.617187863 | None | None | N |
| G/C | 0.8856 | likely_pathogenic | 0.8974 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/D | 0.9033 | likely_pathogenic | 0.9233 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/E | 0.9588 | likely_pathogenic | 0.9682 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.636032484 | None | None | N |
| G/F | 0.9893 | likely_pathogenic | 0.9923 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/H | 0.9863 | likely_pathogenic | 0.9889 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/I | 0.9888 | likely_pathogenic | 0.9914 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/K | 0.9854 | likely_pathogenic | 0.9879 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/L | 0.9821 | likely_pathogenic | 0.9838 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/M | 0.9883 | likely_pathogenic | 0.9903 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/N | 0.9551 | likely_pathogenic | 0.9617 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/P | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/Q | 0.9673 | likely_pathogenic | 0.9721 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/R | 0.962 | likely_pathogenic | 0.9717 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.635830679 | None | None | N |
| G/S | 0.6398 | likely_pathogenic | 0.6302 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/T | 0.9258 | likely_pathogenic | 0.9364 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/V | 0.9691 | likely_pathogenic | 0.9758 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.636032484 | None | None | N |
| G/W | 0.9848 | likely_pathogenic | 0.9898 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/Y | 0.9868 | likely_pathogenic | 0.9904 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.755 | 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.