Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25818 | 77677;77678;77679 | chr2:178568680;178568679;178568678 | chr2:179433407;179433406;179433405 |
| N2AB | 24177 | 72754;72755;72756 | chr2:178568680;178568679;178568678 | chr2:179433407;179433406;179433405 |
| N2A | 23250 | 69973;69974;69975 | chr2:178568680;178568679;178568678 | chr2:179433407;179433406;179433405 |
| N2B | 16753 | 50482;50483;50484 | chr2:178568680;178568679;178568678 | chr2:179433407;179433406;179433405 |
| Novex-1 | 16878 | 50857;50858;50859 | chr2:178568680;178568679;178568678 | chr2:179433407;179433406;179433405 |
| Novex-2 | 16945 | 51058;51059;51060 | chr2:178568680;178568679;178568678 | chr2:179433407;179433406;179433405 |
| 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/A | rs781425261  |
-0.301 | 0.999 | N | 0.679 | 0.559 | 0.49676076625 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 1.4529E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| E/A | rs781425261 |
-0.301 | 0.999 | N | 0.679 | 0.559 | 0.49676076625 | gnomAD-4.0.0 | 1.1145E-05 | None | None | None | None | N | None | 0 | 1.37256E-04 | None | 0 | 0 | None | 0 | 0 | 2.85958E-06 | 0 | 0 |
| E/K | rs748619096 |
-0.016 | 0.999 | N | 0.558 | 0.442 | 0.407082143382 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| E/K | rs748619096 |
-0.016 | 0.999 | N | 0.558 | 0.442 | 0.407082143382 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| E/K | rs748619096 |
-0.016 | 0.999 | N | 0.558 | 0.442 | 0.407082143382 | gnomAD-4.0.0 | 1.61164E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.1251E-05 | 1.64636E-04 | 1.78029E-05 | 0 | 3.20318E-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 | 0.18 | likely_benign | 0.1794 | benign | -0.53 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.498431895 | None | None | N |
| E/C | 0.864 | likely_pathogenic | 0.8632 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/D | 0.1287 | likely_benign | 0.1261 | benign | -0.702 | Destabilizing | 0.999 | D | 0.467 | neutral | N | 0.479091773 | None | None | N |
| E/F | 0.8328 | likely_pathogenic | 0.8234 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| E/G | 0.309 | likely_benign | 0.3006 | benign | -0.828 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.515752909 | None | None | N |
| E/H | 0.5235 | ambiguous | 0.5132 | ambiguous | 0.052 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| E/I | 0.3687 | ambiguous | 0.3542 | ambiguous | 0.257 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| E/K | 0.2401 | likely_benign | 0.2235 | benign | -0.115 | Destabilizing | 0.999 | D | 0.558 | neutral | N | 0.503448713 | None | None | N |
| E/L | 0.4749 | ambiguous | 0.4705 | ambiguous | 0.257 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/M | 0.4814 | ambiguous | 0.4699 | ambiguous | 0.347 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| E/N | 0.269 | likely_benign | 0.2529 | benign | -0.647 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/P | 0.7648 | likely_pathogenic | 0.7718 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/Q | 0.1568 | likely_benign | 0.1543 | benign | -0.534 | Destabilizing | 1.0 | D | 0.605 | neutral | D | 0.528845803 | None | None | N |
| E/R | 0.3797 | ambiguous | 0.3572 | ambiguous | 0.233 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/S | 0.2081 | likely_benign | 0.2008 | benign | -0.838 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| E/T | 0.1967 | likely_benign | 0.1913 | benign | -0.588 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/V | 0.2159 | likely_benign | 0.2111 | benign | 0.016 | Stabilizing | 1.0 | D | 0.762 | deleterious | D | 0.537678717 | None | None | N |
| E/W | 0.9502 | likely_pathogenic | 0.9451 | pathogenic | 0.233 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/Y | 0.7535 | likely_pathogenic | 0.7346 | pathogenic | 0.241 | Stabilizing | 1.0 | D | 0.778 | 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.