Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17829 | 53710;53711;53712 | chr2:178607117;178607116;178607115 | chr2:179471844;179471843;179471842 |
| N2AB | 16188 | 48787;48788;48789 | chr2:178607117;178607116;178607115 | chr2:179471844;179471843;179471842 |
| N2A | 15261 | 46006;46007;46008 | chr2:178607117;178607116;178607115 | chr2:179471844;179471843;179471842 |
| N2B | 8764 | 26515;26516;26517 | chr2:178607117;178607116;178607115 | chr2:179471844;179471843;179471842 |
| Novex-1 | 8889 | 26890;26891;26892 | chr2:178607117;178607116;178607115 | chr2:179471844;179471843;179471842 |
| Novex-2 | 8956 | 27091;27092;27093 | chr2:178607117;178607116;178607115 | chr2:179471844;179471843;179471842 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1460605461  |
-0.709 | 0.998 | N | 0.517 | 0.336 | 0.413113201963 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| E/K | rs1460605461 |
-0.709 | 0.998 | N | 0.517 | 0.336 | 0.413113201963 | gnomAD-4.0.0 | 1.59338E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86208E-06 | 0 | 0 |
| E/V | rs764618019 |
-0.38 | 0.999 | N | 0.616 | 0.394 | 0.530803083455 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| E/V | rs764618019 |
-0.38 | 0.999 | N | 0.616 | 0.394 | 0.530803083455 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/V | rs764618019 |
-0.38 | 0.999 | N | 0.616 | 0.394 | 0.530803083455 | gnomAD-4.0.0 | 2.48033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.392E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5081 | ambiguous | 0.4689 | ambiguous | -0.866 | Destabilizing | 0.767 | D | 0.255 | neutral | N | 0.516940006 | None | None | N |
| E/C | 0.9765 | likely_pathogenic | 0.9778 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/D | 0.5363 | ambiguous | 0.5942 | pathogenic | -0.931 | Destabilizing | 0.999 | D | 0.459 | neutral | N | 0.519367023 | None | None | N |
| E/F | 0.9824 | likely_pathogenic | 0.9831 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| E/G | 0.7669 | likely_pathogenic | 0.771 | pathogenic | -1.165 | Destabilizing | 0.996 | D | 0.558 | neutral | N | 0.484753006 | None | None | N |
| E/H | 0.9366 | likely_pathogenic | 0.9475 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| E/I | 0.8667 | likely_pathogenic | 0.8744 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| E/K | 0.7796 | likely_pathogenic | 0.7993 | pathogenic | -0.544 | Destabilizing | 0.998 | D | 0.517 | neutral | N | 0.520289743 | None | None | N |
| E/L | 0.9051 | likely_pathogenic | 0.9099 | pathogenic | -0.069 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/M | 0.918 | likely_pathogenic | 0.9154 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| E/N | 0.869 | likely_pathogenic | 0.8829 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| E/P | 0.7447 | likely_pathogenic | 0.7698 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| E/Q | 0.5309 | ambiguous | 0.523 | ambiguous | -0.796 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.505109647 | None | None | N |
| E/R | 0.8356 | likely_pathogenic | 0.8613 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| E/S | 0.7311 | likely_pathogenic | 0.7202 | pathogenic | -1.124 | Destabilizing | 0.994 | D | 0.477 | neutral | None | None | None | None | N |
| E/T | 0.8031 | likely_pathogenic | 0.81 | pathogenic | -0.89 | Destabilizing | 0.999 | D | 0.58 | neutral | None | None | None | None | N |
| E/V | 0.7114 | likely_pathogenic | 0.7272 | pathogenic | -0.314 | Destabilizing | 0.999 | D | 0.616 | neutral | N | 0.484499517 | None | None | N |
| E/W | 0.9935 | likely_pathogenic | 0.995 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/Y | 0.9679 | likely_pathogenic | 0.9727 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | 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.