Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26860 | 80803;80804;80805 | chr2:178565554;178565553;178565552 | chr2:179430281;179430280;179430279 |
| N2AB | 25219 | 75880;75881;75882 | chr2:178565554;178565553;178565552 | chr2:179430281;179430280;179430279 |
| N2A | 24292 | 73099;73100;73101 | chr2:178565554;178565553;178565552 | chr2:179430281;179430280;179430279 |
| N2B | 17795 | 53608;53609;53610 | chr2:178565554;178565553;178565552 | chr2:179430281;179430280;179430279 |
| Novex-1 | 17920 | 53983;53984;53985 | chr2:178565554;178565553;178565552 | chr2:179430281;179430280;179430279 |
| Novex-2 | 17987 | 54184;54185;54186 | chr2:178565554;178565553;178565552 | chr2:179430281;179430280;179430279 |
| 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/R | rs1184082030  |
None | 1.0 | D | 0.909 | 0.799 | 0.730005326316 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| G/R | rs1184082030 |
None | 1.0 | D | 0.909 | 0.799 | 0.730005326316 | gnomAD-4.0.0 | 6.57704E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8105 | likely_pathogenic | 0.7513 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.558923178 | None | None | N |
| G/C | 0.9233 | likely_pathogenic | 0.8868 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/D | 0.9331 | likely_pathogenic | 0.9003 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/E | 0.9514 | likely_pathogenic | 0.9214 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.547402289 | None | None | N |
| G/F | 0.9865 | likely_pathogenic | 0.9811 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/H | 0.9866 | likely_pathogenic | 0.9802 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/I | 0.9835 | likely_pathogenic | 0.9745 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/K | 0.9858 | likely_pathogenic | 0.9791 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/L | 0.9803 | likely_pathogenic | 0.9711 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/M | 0.983 | likely_pathogenic | 0.9741 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/N | 0.9485 | likely_pathogenic | 0.9333 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/P | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/Q | 0.9655 | likely_pathogenic | 0.9477 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/R | 0.9661 | likely_pathogenic | 0.954 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.547655778 | None | None | N |
| G/S | 0.7069 | likely_pathogenic | 0.6375 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/T | 0.9351 | likely_pathogenic | 0.9151 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/V | 0.9646 | likely_pathogenic | 0.9456 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.547909268 | None | None | N |
| G/W | 0.9738 | likely_pathogenic | 0.9632 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Y | 0.9733 | likely_pathogenic | 0.9629 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.897 | 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.