Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15698 | 47317;47318;47319 | chr2:178618366;178618365;178618364 | chr2:179483093;179483092;179483091 |
| N2AB | 14057 | 42394;42395;42396 | chr2:178618366;178618365;178618364 | chr2:179483093;179483092;179483091 |
| N2A | 13130 | 39613;39614;39615 | chr2:178618366;178618365;178618364 | chr2:179483093;179483092;179483091 |
| N2B | 6633 | 20122;20123;20124 | chr2:178618366;178618365;178618364 | chr2:179483093;179483092;179483091 |
| Novex-1 | 6758 | 20497;20498;20499 | chr2:178618366;178618365;178618364 | chr2:179483093;179483092;179483091 |
| Novex-2 | 6825 | 20698;20699;20700 | chr2:178618366;178618365;178618364 | chr2:179483093;179483092;179483091 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | None | None | 1.0 | D | 0.755 | 0.494 | 0.440810947182 | gnomAD-4.0.0 | 6.84683E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9991E-07 | 0 | 0 |
| D/N | rs1045612706  |
-1.39 | 1.0 | D | 0.657 | 0.421 | 0.465633601861 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs1045612706 |
-1.39 | 1.0 | D | 0.657 | 0.421 | 0.465633601861 | gnomAD-4.0.0 | 8.2162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89901E-06 | 1.15966E-05 | 0 |
| D/V | None | None | 1.0 | D | 0.817 | 0.57 | 0.534287799004 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9777 | likely_pathogenic | 0.9448 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.519364972 | None | None | N |
| D/C | 0.9904 | likely_pathogenic | 0.9796 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/E | 0.8612 | likely_pathogenic | 0.7878 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.492 | neutral | N | 0.447180746 | None | None | N |
| D/F | 0.9962 | likely_pathogenic | 0.9912 | pathogenic | 0.139 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/G | 0.9847 | likely_pathogenic | 0.9586 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.511178053 | None | None | N |
| D/H | 0.987 | likely_pathogenic | 0.9641 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.6240775 | None | None | N |
| D/I | 0.994 | likely_pathogenic | 0.986 | pathogenic | 0.673 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/K | 0.9971 | likely_pathogenic | 0.9915 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/L | 0.9901 | likely_pathogenic | 0.98 | pathogenic | 0.673 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| D/M | 0.9972 | likely_pathogenic | 0.994 | pathogenic | 1.14 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/N | 0.8465 | likely_pathogenic | 0.7174 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.657 | neutral | D | 0.522973465 | None | None | N |
| D/P | 0.9972 | likely_pathogenic | 0.9908 | pathogenic | 0.323 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/Q | 0.9925 | likely_pathogenic | 0.9821 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/R | 0.997 | likely_pathogenic | 0.9916 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/S | 0.957 | likely_pathogenic | 0.9023 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/T | 0.9906 | likely_pathogenic | 0.976 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/V | 0.9821 | likely_pathogenic | 0.9598 | pathogenic | 0.323 | Stabilizing | 1.0 | D | 0.817 | deleterious | D | 0.538182378 | None | None | N |
| D/W | 0.9989 | likely_pathogenic | 0.9969 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/Y | 0.9717 | likely_pathogenic | 0.93 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.789 | deleterious | D | 0.687348497 | 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.